Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version - National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version - National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version

Clinical Management of Carriers of BRCA Pathogenic Variants

Ovarian cancer

Prognosis of BRCA1- and BRCA2-related ovarian cancer

Despite generally poor prognostic factors, several studies have found an improved survival among ovarian cancer patients with BRCA pathogenic variants.[294-302] A nationwide, population-based, case-control study in Israel found 3-year survival rates to be significantly better for ovarian cancer patients with BRCA founder pathogenic variants, compared with controls.[295] Five-year follow-up in the same cohort showed improved survival for carriers of both BRCA1 and BRCA2 pathogenic variants (54 months) versus noncarriers (38 months), which was most pronounced for women with stages III and IV ovarian cancer and for women with high-grade tumors.[303] In a U.S. study of AJ women with ovarian cancer, those with BRCA pathogenic variants had a longer median time to recurrence and an overall improved survival, compared with both AJ women with ovarian cancer who did not have a BRCA pathogenic variant and two large groups of advanced-stage ovarian cancer clinical trial patients.[299] In a retrospective U.S. hospital-based study, AJ carriers of BRCA pathogenic variants had a better response to platinum-based chemotherapy, as measured by response to primary therapy, disease-free survival, and OS, compared with sporadic cases.[297] Similarly, a significant survival advantage was seen in a case-control study among women with non-AJ BRCA pathogenic variants.[304] A study from the Netherlands also showed a better response to platinum-based primary chemotherapy in 112 BRCA1/BRCA2 carriers than in 220 sporadic ovarian cancer patients.[305] A U.S. population-based study showed improvement in OS in BRCA2, but not in BRCA1, carriers.[306] However, the study included only 12 carriers of BRCA2 pathogenic variants and 20 carriers of BRCA1 pathogenic variants. Significantly better OS and PFS were observed in 29 high-grade serous ovarian cancer cases with a known BRCA2 variant (20 germline, 9 somatic) from The Cancer Genome Atlas study compared with cases negative for a BRCA pathogenic variant. BRCA1 pathogenic variants were not significantly associated with prognosis.[307] Furthermore, a pooled analysis of 26 observational studies that included 1,213 carriers of BRCA pathogenic variants and 2,666 noncarriers with epithelial ovarian cancer showed more favorable survival in carriers of pathogenic variants (BRCA1: HR, 0.73; 95% CI, 0.64–0.84; P < .001; BRCA2: HR, 0.49; 95% CI, 0.39–0.61; P < .001).[308] Thus, 5-year survival in both BRCA1 and BRCA2 carriers with epithelial ovarian cancers was better than that observed in noncarriers, with BRCA2 carriers having the best prognosis. A study in Japanese patients found a survival advantage in stage III BRCA1-associated ovarian cancers treated with cisplatin regimens compared with nonhereditary cancers treated in a similar manner.[298]

In contrast, several studies have not found improved OS among ovarian cancer patients with BRCA pathogenic variants.[257,309-311] The largest of these studies involved a large series of unselected Canadian and U.S. patients who were tested for BRCA1 and BRCA2 pathogenic variants. At 3 years, the presence of a pathogenic variant was associated with a better prognosis, but at 10 years, there was no longer a difference seen in prognosis.[312] Furthermore, one study suggested that there was worse survival in ovarian cancer patients with a family history.[310]

Compelling data suggest a short-term survival advantage in carriers of BRCA pathogenic variants. However, long-term outcomes are yet to be established. Survival in AJ ovarian cancer patients with BRCA1 or BRCA2 founder pathogenic variants does seem to be improved;[307,308] however, further large studies in other populations with appropriate controls are needed to determine whether this survival advantage applies more broadly to all BRCA cancers.

Systemic therapy in ovarian cancer treatment

The molecular mechanisms that explain the improved prognosis in hereditary BRCA-associated ovarian cancer are unknown but may be related to the function of BRCA genes. BRCA genes play an important role in cell-cycle checkpoint activation and in the repair of damaged DNA via homologous recombination.[313,314] In addition to BRCA, other genes maintain homologous recombination, such as ATM, BARD1, PALB2, BRIP1, RAD51, BLM, CHEK2, and NBN. Comprehensive genetic testing of larger numbers of ovarian cancers has shown that approximately 50% of serous ovarian tumors may have somatic mutations or germline variants leading to a defective homologous recombination.[315]

Deficiencies in homologous repair can impair the cells’ ability to repair DNA cross-links that result from certain chemotherapy agents, such as cisplatin. Preclinical data has demonstrated BRCA1 impacts chemosensitivity in breast cancer and ovarian cancer cell lines. Reduced BRCA1 protein expression has been shown to enhance cisplatin chemosensitivity.[316] Patients with BRCA-associated ovarian cancer have shown improved responses to both first-line and subsequent platinum-based chemotherapy compared with patients with sporadic cancers, which may contribute to their better outcome.[297,300] Women with ovarian cancer whose tumors have homologous recombination repair gene deficiency (HRD), resulting from either germline variants or somatic mutations, have improved survival compared with women with an intact homologous recombination. The majority of homologous recombination repair gene variants consist of somatic mutations or germline variants in BRCA1 and BRCA2, with one-third contributed by variants in other homologous repair genes.[317,318]

PARP pathway inhibitors have been studied for the treatment of BRCA1- or BRCA2-deficient ovarian cancers. (Refer to the Role of BRCA1 and BRCA2 in response to systemic therapy section in the Treatment Strategies section of this summary for more information about PARP inhibitors.) While PARP is involved in the repair of single-stranded breaks by base excision repair, BRCA1 and BRCA2 are active in the repair of double-stranded DNA breaks by homologous combination. Therefore, it was hypothesized that inhibiting base excision repair with PARP inhibition in BRCA1- or BRCA2-deficient tumors leads to enhanced cell death, as two separate repair mechanisms would be compromised—the concept of synthetic lethality. The same concept may apply to tumors with HRD, and consequently, PARP inhibitors may have expanded use in women whose tumors have any homologous recombination defects beyond pathogenic variants in BRCA genes. In clinical practice, there are different tumor assays available to determine HRD tumors, which vary by method and definition. More study of PARP inhibitors in HRD ovarian cancers is ongoing.

PARP inhibitors

Olaparib

Studies have used PARP inhibitors in ovarian cancer after platinum-based chemotherapy. A phase I study of olaparib, an oral PARP inhibitor, demonstrated tolerability and activity in carriers of BRCA1 and BRCA2 pathogenic variants with ovarian, breast, and prostate cancers.[319] A phase II trial of two different doses of olaparib demonstrated tolerability and efficacy in recurrent ovarian cancer patients with BRCA1 or BRCA2 pathogenic variants.[320] The overall response rate was 33% (11 of 33 patients) in the cohort receiving 400 mg twice daily and 13% (3 of 24 patients) in the cohort receiving 100 mg twice daily (i.e., 16 capsules daily). The most frequent side effects were mild nausea and fatigue.[321] In addition to ovarian cancer patients with germline BRCA1 or BRCA2 pathogenic variants, PARP inhibitors also may be useful in ovarian cancer patients with somatic BRCA1 or BRCA2 mutations or with epigenetic silencing of the genes.[322]

Several phase II treatment studies have explored the efficacy of olaparib in patients with recurrent ovarian cancer, in both platinum-sensitive and platinum-resistant disease. Olaparib at 400 mg twice daily was used in a single-arm study to treat a spectrum of 298 BRCA-associated cancers, including breast, pancreas, prostate, and ovarian. Of the 193 women with ovarian cancer treated with olaparib, 31% had a response, and 40.4% had stable disease that persisted for at least 8 weeks.[323] Among the 154 women previously treated with at least three lines of chemotherapy, a similar overall response rate of 30% was seen, with comparable median durations of response of 8.2 months for platinum-sensitive disease and 8.0 months for platinum-resistant disease.[324] Another study of 173 patients with platinum-sensitive disease were treated with paclitaxel/carboplatin plus olaparib versus paclitaxel/carboplatin alone. The PFS was significantly longer in the olaparib group than the control group (12.2 vs. 9.6 months) (HR, 0.51; 95% CI, 0.34–0.77), especially in the subgroup of patients with BRCA pathogenic variants (HR, 0.21; 95% CI, 0.08–0.55). There were no differences in OS between the olaparib and control groups.[325]

In contrast, other studies found that BRCA status did not predict survival advantage in women with platinum-sensitive ovarian cancer treated with olaparib. A randomized open-label trial assigned 90 women with recurrent platinum-sensitive ovarian cancer to either olaparib or cediranib and olaparib. Median PFS was significantly longer with the combination (17.7 mo vs. 9 mo) (HR, 0.42; 95% CI, 0.23–0.76). Subset analysis showed that combination cediranib and olaparib resulted in significantly longer PFS in the 43 BRCA wild-type/unknown patients than did single agent olaparib (16.5 mo vs. 5.7 mo) (HR, 0.32; P = .008) and a smaller trend toward increased PFS in 47 women with BRCA pathogenic variants (19.4 mo vs. 16.5 mo) (HR, 0.55; P = .16).[326]

In another study, women with BRCA1/BRCA2 pathogenic variants and recurrent ovarian cancer within 12 months of a prior platinum-based regimen were randomly assigned to receive liposomal doxorubicin (Doxil) (n = 33) versus olaparib at 200 mg twice daily (n = 32) versus olaparib at 400 mg twice daily (n = 32). This study did not show a difference in PFS between the groups, which was the primary endpoint.[327] Of interest, the liposomal doxorubicin arm had a higher response rate than anticipated, consistent with other studies demonstrating that BRCA1/BRCA2-associated ovarian cancers may be more sensitive to liposomal doxorubicin than are sporadic ovarian cancers.[328,329] Another study demonstrated significant responses to olaparib in recurrent ovarian cancer patients, including patients with a BRCA1/BRCA2 pathogenic variant (objective response rate [ORR], 41%) and patients without a BRCA1/BRCA2 pathogenic variant (ORR, 24%).[330] This study emphasizes that certain sporadic ovarian cancers, particularly those of high-grade serous histology, may have properties similar to tumors related to a BRCA1/BRCA2 pathogenic variant.

As maintenance treatment, olaparib has shown significantly improved PFS in platinum-sensitive recurrent ovarian cancer. In a randomized controlled study of 265 patients (Study 19), those who received olaparib had a PFS of 8.4 months compared with 4.8 months in those who received the placebo (HR, 0.35; 95% CI, 0.25–0.49).[331] Within the cohort, the 136 patients with BRCA pathogenic variants demonstrated the most benefit with olaparib compared with placebo, with a PFS of 11.2 versus 4.3 months (HR, 0.18; 95% CI, 0.1–0.31).[332] There was no OS difference observed in the entire cohort, or in the carriers of BRCA pathogenic variants. A subsequent post hoc exploratory analysis excluded patients with BRCA pathogenic variants who received a PARP inhibitor at the time of progression to minimize the confounding influence on OS. In this group of 97 patients, an improved OS HR of 0.52 (95% CI, 0.28–0.97) was associated with olaparib, compared with placebo.[333] The more mature Study 19 data, after more than five years of follow-up, showed a trend towards OS benefit but did not meet the a priori significance threshold of P < .0001 with olaparib compared with placebo in the entire cohort (29.8 mo vs. 27.8 mo; HR, 0.73; 95% CI, 0.55–0.96), or among BRCA pathogenic variant carriers treated with olaparib (24.5 mo vs. 26.6 mo; HR, 0.62; 95% CI, 0.41–0.94).[334] Olaparib tablets have been shown to be effective maintenance therapy, compared with placebo, in a similar population of women with recurrent, platinum-sensitive ovarian cancer and BRCA pathogenic variants (SOLO2 trial). Olaparib resulted in a median PFS of 19.1 months versus 5.5 months for placebo (HR, 0.30; 95% CI, 0.22–0.41). Olaparib tablets offer the advantage of a reduced daily pill burden (two tablets twice daily) compared with 16 capsules daily.[335]

Olaparib has demonstrated significant benefit as maintenance treatment in women with newly diagnosed advanced-stage, BRCA-associated ovarian cancer following response to primary treatment. The SOLO-1 trial randomly assigned 391 women with BRCA pathogenic variants to either olaparib 300 mg twice daily (n = 260) or placebo (n = 131) after primary surgery and platinum-based chemotherapy. After a median follow-up of 41 months, women receiving olaparib had a 70% lower risk of disease progression or death compared with women receiving placebo with an estimated improved PFS of approximately 3 years.[336] Within 3 years, disease progression or death occurred in 102 of 260 women (39%) in the olaparib group and 96 of 131 women (73%) in the placebo group. Side effects resulted in a dose reduction in 28% of patients and dose interruptions in more than half of patients. Fatigue and nausea were common side effects and reasons for dose reductions.

Rucaparib

Rucaparib is a small molecule inhibitor of PARP-1, -2, and -3 and was approved in the United States for the treatment of advanced germline BRCA1/BRCA2-associated ovarian cancer in December 2016. A phase II study found that continuous dosing provided better response rates than intermittent dosing in women with pathogenic BRCA-associated breast and ovarian cancer.[337] A subsequent phase I/II dose-finding study selected a dose of 600 mg twice daily on the basis of manageable toxicity and a response rate of 59.5% in 42 women with recurrent, germline BRCA-associated, high-grade serous cancer who had received between two and four prior treatment regimens. Common grade 3 toxicities included fatigue, nausea, and anemia.[338]

The ARIEL-2 phase II study found that rucaparib was effective in the treatment of recurrent, high-grade, platinum-sensitive ovarian cancer in women with BRCA variants, but also in BRCA wild-type women with high genomic loss of heterozygosity (LOH), which is a likely marker of HRD cancers. The study enrolled 206 women, of whom 40 had germline pathogenic variants or somatic mutations in BRCA. An additional 82 were BRCA wild-type, but had high LOH. Median PFS was significantly longer in the BRCA variant subgroup (12.8 mo) (HR, 0.27; 95% CI, 0.16–44), and the high LOH subgroup (5.8 mo) (HR, 0.62; 95% CI, 0.42–0.90), compared with the low LOH subgroup (5.2 mo). The authors concluded that both BRCA variant status and LOH score, as a surrogate for HRD, were molecular predictors of rucaparib sensitivity in women with recurrent, platinum-sensitive, high-grade ovarian cancer.[339]

A phase III trial assessed rucaparib versus placebo in 576 women with recurrent, platinum-sensitive, high-grade ovarian cancer after response to second line, or greater, platinum chemotherapy. The study found that 196 women had BRCA pathogenic variants: 130 germline variants and 56 somatic mutations. Median PFS of women in the rucaparib group was 10.8 versus 5.4 months (HR, 0.35; 95% CI, 0.30–0.45). Median PFS was the most prolonged in BRCA-associated ovarian cancer: 16.6 months in the rucaparib group versus 5.4 months in the placebo group (HR, 0.23; 95% CI, 0.16–0.34). In women with HRD cancers, the median PFS was 13.6 versus 5.4 months (HR, 0.32; 95% CI, 0.24–0.42). On the basis of these data, the authors concluded that platinum sensitivity alone was a sufficient marker to predict benefit from rucaparib in women with advanced high-grade ovarian cancer, without requiring additional HRD or BRCA testing.[340]

Niraparib

Niraparib is a selective inhibitor of PARP-1 and -2. A phase I dose-finding study observed a response rate of 42% with 300 mg daily in women with recurrent, BRCA-associated solid tumors.[341] In a cohort of 500 patients with platinum-sensitive, recurrent ovarian cancer, 234 received niraparib maintenance treatment and 116 received placebo (NOVA trial).[342] Niraparib maintenance resulted in improved PFS in BRCA pathogenic variant carriers (at 21 mo) and in wild-type patients with HRD positivity (at 12 mo) compared with wild-type patients without HRD tumor positivity (at 9 mo). Consistent with prior data, patients with germline BRCA pathogenic variants had the longest PFS of the three groups. Based upon the broad activity of niraparib maintenance in heavily pretreated women with ovarian cancer, regardless of platinum response or variant status, the QUADRA phase II trial studied the antitumor activity of niraparib in 463 women with recurrent, measurable ovarian cancer. Women had received a median of four prior lines of treatment. Twenty-eight percent of women had an overall response with a median duration of 9 months, which was improved in platinum sensitive, HRD-positive women.[343]

More mature data are necessary to determine whether platinum sensitivity alone is a marker of response to PARP inhibitors in women with BRCA pathogenic variants, and the optimal timing of PARP inhibitors as treatment or as maintenance therapy. HRD status may also be used to predict response to PARP treatment on the basis of a better understanding of the multiple genes involved in homologous repair pathways.

Level of evidence: 3dii

Available Clinical Practice Guidelines for Hereditary Breast and Ovarian Cancer

Table 13 lists several organizations that have published recommendations for cancer risk assessment and genetic counseling, genetic testing, and/or management for hereditary breast and ovarian cancer.

Table 13. Available Clinical Practice Guidelines for Hereditary Breast and Ovarian Cancer (HBOC)

ENLARGE

Organization	Referral Recommendations	Risk Assessment and Genetic Counseling Recommendations	Genetic Testing Recommendations	Management Recommendations
ACMG/NSGC = American College of Medical Genetics and Genomics/National Society of Genetic Counselors; ACOG = American College of Obstetricians and Gynecologists; ASCO = American Society of Clinical Oncology; ESMO = European Society for Medical Oncology; NAPBC = National Accreditation Program for Breast Centers; NCCN = National Comprehensive Cancer Network; NSGC = National Society of Genetic Counselors; SGO = Society of Gynecologic Oncology; USPSTF = U.S. Preventive Services Task Force.
aThe USPSTF guidelines apply to individuals without a prior cancer diagnosis.
ACMG/NSGC (2015) [344]	Addressed	Risk Assessment: Addressed	Not addressed	Not addressed
		Genetic Counseling: Addressed
ACOG (2017) [345]	Addressed	Risk Assessment: Addressed	Addressed	Addressed
		Genetic Counseling: Addressed
ASCO (2015) [346]	Not addressed	Risk Assessment: General recommendations; not specific to HBOC	General recommendations; not specific to HBOC	Not addressed
		Genetic Counseling: Addressed
ESMO (2016) [347]	Refers to other published guidelines	Risk Assessment: Refers to other published guidelines	Refers to other published guidelines	Addressed
		Genetic Counseling: Addressed
NAPBC (2014) [348]	Refers to other published guidelines	Risk Assessment: Refers to other published guidelines	Indications for testing not addressed; components of pretest and posttest counseling addressed	Not addressed
		Genetic Counseling: Addressed
NSGC (2013) [349]	Addressed	Risk Assessment: Refers to other published guidelines and available models	Addressed	Refers to other published guidelines
		Genetic Counseling: Addressed
NCCN (2020) [33]	Addressed	Risk Assessment: Addressed	Addressed	Addressed
		Genetic Counseling: Addressed
SGO (2015, 2017) [345,350]	Addressed	Risk Assessment: Addressed	Addressed	Addressed
		Genetic Counseling: Addressed
USPSTFa (2019) [351]	Addressed	Risk Assessment: Addressed	Addressed in general terms and other guidelines referenced	Addressed in general terms and other guidelines referenced
		Genetic Counseling: Addressed

References

1. U.S. Preventive Services Task Force: Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143 (5): 355-61, 2005. [PUBMED Abstract]
2. Domchek SM, Friebel TM, Singer CF, et al.: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304 (9): 967-75, 2010. [PUBMED Abstract]
3. Rebbeck TR, Friebel T, Lynch HT, et al.: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22 (6): 1055-62, 2004. [PUBMED Abstract]
4. Evans DG, Ingham SL, Baildam A, et al.: Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat 140 (1): 135-42, 2013. [PUBMED Abstract]
5. Kurian AW, Sigal BM, Plevritis SK: Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol 28 (2): 222-31, 2010. [PUBMED Abstract]
6. Kauff ND, Domchek SM, Friebel TM, et al.: Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26 (8): 1331-7, 2008. [PUBMED Abstract]
7. Finch AP, Lubinski J, Møller P, et al.: Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 32 (15): 1547-53, 2014. [PUBMED Abstract]
8. Thomas DB, Gao DL, Self SG, et al.: Randomized trial of breast self-examination in Shanghai: methodology and preliminary results. J Natl Cancer Inst 89 (5): 355-65, 1997. [PUBMED Abstract]
9. Scheuer L, Kauff N, Robson M, et al.: Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 20 (5): 1260-8, 2002. [PUBMED Abstract]
10. Brekelmans CT, Seynaeve C, Bartels CC, et al.: Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol 19 (4): 924-30, 2001. [PUBMED Abstract]
11. Burke W, Daly M, Garber J, et al.: Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277 (12): 997-1003, 1997. [PUBMED Abstract]
12. Shapiro S: Periodic screening for breast cancer: the Health Insurance Plan project and its sequelae, 1963-1986. Baltimore, Md: Johns Hopkins University Press, 1988.
13. Kerlikowske K, Grady D, Barclay J, et al.: Effect of age, breast density, and family history on the sensitivity of first screening mammography. JAMA 276 (1): 33-8, 1996. [PUBMED Abstract]
14. Kerlikowske K, Carney PA, Geller B, et al.: Performance of screening mammography among women with and without a first-degree relative with breast cancer. Ann Intern Med 133 (11): 855-63, 2000. [PUBMED Abstract]
15. Kerlikowske K, Grady D, Barclay J, et al.: Positive predictive value of screening mammography by age and family history of breast cancer. JAMA 270 (20): 2444-50, 1993. [PUBMED Abstract]
16. Tilanus-Linthorst M, Verhoog L, Obdeijn IM, et al.: A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography. Int J Cancer 102 (1): 91-5, 2002. [PUBMED Abstract]
17. Tilanus-Linthorst MM, Kriege M, Boetes C, et al.: Hereditary breast cancer growth rates and its impact on screening policy. Eur J Cancer 41 (11): 1610-7, 2005. [PUBMED Abstract]
18. Mitchell G, Antoniou AC, Warren R, et al.: Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res 66 (3): 1866-72, 2006. [PUBMED Abstract]
19. Miller AB, To T, Baines CJ, et al.: Canadian National Breast Screening Study-2: 13-year results of a randomized trial in women aged 50-59 years. J Natl Cancer Inst 92 (18): 1490-9, 2000. [PUBMED Abstract]
20. Shtern F: Digital mammography and related technologies: a perspective from the National Cancer Institute. Radiology 183 (3): 629-30, 1992. [PUBMED Abstract]
21. Lewin JM, D'Orsi CJ, Hendrick RE, et al.: Clinical comparison of full-field digital mammography and screen-film mammography for detection of breast cancer. AJR Am J Roentgenol 179 (3): 671-7, 2002. [PUBMED Abstract]
22. Pisano ED, Gatsonis C, Hendrick E, et al.: Diagnostic performance of digital versus film mammography for breast-cancer screening. N Engl J Med 353 (17): 1773-83, 2005. [PUBMED Abstract]
23. Sharan SK, Morimatsu M, Albrecht U, et al.: Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386 (6627): 804-10, 1997. [PUBMED Abstract]
24. Gowen LC, Avrutskaya AV, Latour AM, et al.: BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281 (5379): 1009-12, 1998. [PUBMED Abstract]
25. Abbott DW, Freeman ML, Holt JT: Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 90 (13): 978-85, 1998. [PUBMED Abstract]
26. Narod SA, Lubinski J, Ghadirian P, et al.: Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol 7 (5): 402-6, 2006. [PUBMED Abstract]
27. Goldfrank D, Chuai S, Bernstein JL, et al.: Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2. Cancer Epidemiol Biomarkers Prev 15 (11): 2311-3, 2006. [PUBMED Abstract]
28. Giannakeas V, Lubinski J, Gronwald J, et al.: Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study. Breast Cancer Res Treat 147 (1): 113-8, 2014. [PUBMED Abstract]
29. Andrieu N, Easton DF, Chang-Claude J, et al.: Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group. J Clin Oncol 24 (21): 3361-6, 2006. [PUBMED Abstract]
30. Pijpe A, Andrieu N, Easton DF, et al.: Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ 345: e5660, 2012. [PUBMED Abstract]
31. Berrington de Gonzalez A, Berg CD, Visvanathan K, et al.: Estimated risk of radiation-induced breast cancer from mammographic screening for young BRCA mutation carriers. J Natl Cancer Inst 101 (3): 205-9, 2009. [PUBMED Abstract]
32. Lowry KP, Lee JM, Kong CY, et al.: Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer 118 (8): 2021-30, 2012. [PUBMED Abstract]
33. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2020. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2019. Available online with free registration.Exit Disclaimer Last accessed December 23, 2019.
34. Kriege M, Brekelmans CT, Boetes C, et al.: Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351 (5): 427-37, 2004. [PUBMED Abstract]
35. Lehman CD, Blume JD, Weatherall P, et al.: Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer 103 (9): 1898-905, 2005. [PUBMED Abstract]
36. Leach MO, Boggis CR, Dixon AK, et al.: Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365 (9473): 1769-78, 2005 May 21-27. [PUBMED Abstract]
37. Warner E, Plewes DB, Hill KA, et al.: Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292 (11): 1317-25, 2004. [PUBMED Abstract]
38. Lehman CD, Isaacs C, Schnall MD, et al.: Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study. Radiology 244 (2): 381-8, 2007. [PUBMED Abstract]
39. Sardanelli F, Podo F, D'Agnolo G, et al.: Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology 242 (3): 698-715, 2007. [PUBMED Abstract]
40. Kuhl C, Weigel S, Schrading S, et al.: Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J Clin Oncol 28 (9): 1450-7, 2010. [PUBMED Abstract]
41. Shah P, Rosen M, Stopfer J, et al.: Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence. Breast Cancer Res Treat 118 (3): 539-46, 2009. [PUBMED Abstract]
42. Rijnsburger AJ, Obdeijn IM, Kaas R, et al.: BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study. J Clin Oncol 28 (36): 5265-73, 2010. [PUBMED Abstract]
43. Weinstein SP, Localio AR, Conant EF, et al.: Multimodality screening of high-risk women: a prospective cohort study. J Clin Oncol 27 (36): 6124-8, 2009. [PUBMED Abstract]
44. Sardanelli F, Podo F, Santoro F, et al.: Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results. Invest Radiol 46 (2): 94-105, 2011. [PUBMED Abstract]
45. Lord SJ, Lei W, Craft P, et al.: A systematic review of the effectiveness of magnetic resonance imaging (MRI) as an addition to mammography and ultrasound in screening young women at high risk of breast cancer. Eur J Cancer 43 (13): 1905-17, 2007. [PUBMED Abstract]
46. Obdeijn IM, Loo CE, Rijnsburger AJ, et al.: Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Res Treat 119 (2): 399-407, 2010. [PUBMED Abstract]
47. Heijnsdijk EA, Warner E, Gilbert FJ, et al.: Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev 21 (9): 1458-68, 2012. [PUBMED Abstract]
48. Passaperuma K, Warner E, Causer PA, et al.: Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 107 (1): 24-30, 2012. [PUBMED Abstract]
49. Saadatmand S, Obdeijn IM, Rutgers EJ, et al.: Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC). Int J Cancer 137 (7): 1729-38, 2015. [PUBMED Abstract]
50. Saslow D, Boetes C, Burke W, et al.: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57 (2): 75-89, 2007 Mar-Apr. [PUBMED Abstract]
51. O'Driscoll D, Warren R, MacKay J, et al.: Screening with breast ultrasound in a population at moderate risk due to family history. J Med Screen 8 (2): 106-9, 2001. [PUBMED Abstract]
52. Berg WA, Blume JD, Cormack JB, et al.: Combined screening with ultrasound and mammography vs mammography alone in women at elevated risk of breast cancer. JAMA 299 (18): 2151-63, 2008. [PUBMED Abstract]
53. Giuliano AE, Boolbol S, Degnim A, et al.: Society of Surgical Oncology: position statement on prophylactic mastectomy. Approved by the Society of Surgical Oncology Executive Council, March 2007. Ann Surg Oncol 14 (9): 2425-7, 2007. [PUBMED Abstract]
54. Hartmann LC, Sellers TA, Schaid DJ, et al.: Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93 (21): 1633-7, 2001. [PUBMED Abstract]
55. Meijers-Heijboer H, van Geel B, van Putten WL, et al.: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345 (3): 159-64, 2001. [PUBMED Abstract]
56. Hartmann LC, Schaid DJ, Woods JE, et al.: Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340 (2): 77-84, 1999. [PUBMED Abstract]
57. Schrag D, Kuntz KM, Garber JE, et al.: Decision analysis--effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 336 (20): 1465-71, 1997. [PUBMED Abstract]
58. Kurian AW, Munoz DF, Rust P, et al.: Online tool to guide decisions for BRCA1/2 mutation carriers. J Clin Oncol 30 (5): 497-506, 2012. [PUBMED Abstract]
59. Unic I, Stalmeier PF, Verhoef LC, et al.: Assessment of the time-tradeoff values for prophylactic mastectomy of women with a suspected genetic predisposition to breast cancer. Med Decis Making 18 (3): 268-77, 1998 Jul-Sep. [PUBMED Abstract]
60. Grann VR, Panageas KS, Whang W, et al.: Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients. J Clin Oncol 16 (3): 979-85, 1998. [PUBMED Abstract]
61. Tuttle TM, Habermann EB, Grund EH, et al.: Increasing use of contralateral prophylactic mastectomy for breast cancer patients: a trend toward more aggressive surgical treatment. J Clin Oncol 25 (33): 5203-9, 2007. [PUBMED Abstract]
62. Jones NB, Wilson J, Kotur L, et al.: Contralateral prophylactic mastectomy for unilateral breast cancer: an increasing trend at a single institution. Ann Surg Oncol 16 (10): 2691-6, 2009. [PUBMED Abstract]
63. Nichols HB, Berrington de González A, Lacey JV, et al.: Declining incidence of contralateral breast cancer in the United States from 1975 to 2006. J Clin Oncol 29 (12): 1564-9, 2011. [PUBMED Abstract]
64. Fayanju OM, Stoll CR, Fowler S, et al.: Contralateral prophylactic mastectomy after unilateral breast cancer: a systematic review and meta-analysis. Ann Surg 260 (6): 1000-10, 2014. [PUBMED Abstract]
65. Metcalfe K, Gershman S, Ghadirian P, et al.: Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348: g226, 2014. [PUBMED Abstract]
66. Chiba A, Hoskin TL, Hallberg EJ, et al.: Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer. Ann Surg Oncol 23 (10): 3232-8, 2016. [PUBMED Abstract]
67. van Sprundel TC, Schmidt MK, Rookus MA, et al.: Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer 93 (3): 287-92, 2005. [PUBMED Abstract]
68. Evans DG, Baildam AD, Anderson E, et al.: Risk reducing mastectomy: outcomes in 10 European centres. J Med Genet 46 (4): 254-8, 2009. [PUBMED Abstract]
69. Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, et al.: Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer 136 (3): 668-77, 2015. [PUBMED Abstract]
70. Jatoi I, Parsons HM: Contralateral prophylactic mastectomy and its association with reduced mortality: evidence for selection bias. Breast Cancer Res Treat 148 (2): 389-96, 2014. [PUBMED Abstract]
71. Yao K, Liederbach E, Tang R, et al.: Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature. Ann Surg Oncol 22 (2): 370-6, 2015. [PUBMED Abstract]
72. Manning AT, Wood C, Eaton A, et al.: Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance. Br J Surg 102 (11): 1354-9, 2015. [PUBMED Abstract]
73. Kauff ND, Brogi E, Scheuer L, et al.: Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations. Cancer 97 (7): 1601-8, 2003. [PUBMED Abstract]
74. Hoogerbrugge N, Bult P, de Widt-Levert LM, et al.: High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J Clin Oncol 21 (1): 41-5, 2003. [PUBMED Abstract]
75. Kroiss R, Winkler V, Kalteis K, et al.: Prevalence of pre-malignant and malignant lesions in prophylactic mastectomy specimens of BRCA1 mutation carriers: comparison with a control group. J Cancer Res Clin Oncol 134 (10): 1113-21, 2008. [PUBMED Abstract]
76. Scott CI, Iorgulescu DG, Thorne HJ, et al.: Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy. Clin Genet 64 (2): 111-21, 2003. [PUBMED Abstract]
77. Olson JE, Sellers TA, Iturria SJ, et al.: Bilateral oophorectomy and breast cancer risk reduction among women with a family history. Cancer Detect Prev 28 (5): 357-60, 2004. [PUBMED Abstract]
78. Rebbeck TR, Lynch HT, Neuhausen SL, et al.: Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346 (21): 1616-22, 2002. [PUBMED Abstract]
79. Struewing JP, Watson P, Easton DF, et al.: Prophylactic oophorectomy in inherited breast/ovarian cancer families. J Natl Cancer Inst Monogr (17): 33-5, 1995. [PUBMED Abstract]
80. Rebbeck TR, Levin AM, Eisen A, et al.: Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 91 (17): 1475-9, 1999. [PUBMED Abstract]
81. Kauff ND, Satagopan JM, Robson ME, et al.: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346 (21): 1609-15, 2002. [PUBMED Abstract]
82. Rebbeck TR, Kauff ND, Domchek SM: Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101 (2): 80-7, 2009. [PUBMED Abstract]
83. Heemskerk-Gerritsen BA, Seynaeve C, van Asperen CJ, et al.: Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer Inst 107 (5): , 2015. [PUBMED Abstract]
84. Chai X, Domchek S, Kauff N, et al.: RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. J Natl Cancer Inst 107 (9): , 2015. [PUBMED Abstract]
85. Metcalfe K, Lynch HT, Foulkes WD, et al.: Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. JAMA Oncol 1 (3): 306-13, 2015. [PUBMED Abstract]
86. Kotsopoulos J, Huzarski T, Gronwald J, et al.: Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst 109 (1): , 2017. [PUBMED Abstract]
87. Terry MB, Daly MB, Phillips KA, et al.: Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk. J Natl Cancer Inst 111 (3): 331-334, 2019. [PUBMED Abstract]
88. Marchetti C, De Felice F, Palaia I, et al.: Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers. BMC Womens Health 14: 150, 2014. [PUBMED Abstract]
89. Fisher B, Costantino JP, Wickerham DL, et al.: Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 90 (18): 1371-88, 1998. [PUBMED Abstract]
90. Veronesi U, Maisonneuve P, Costa A, et al.: Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study. Lancet 352 (9122): 93-7, 1998. [PUBMED Abstract]
91. Powles T, Eeles R, Ashley S, et al.: Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet 352 (9122): 98-101, 1998. [PUBMED Abstract]
92. Cuzick J, Sestak I, Cawthorn S, et al.: Tamoxifen for prevention of breast cancer: extended long-term follow-up of the IBIS-I breast cancer prevention trial. Lancet Oncol 16 (1): 67-75, 2015. [PUBMED Abstract]
93. King MC, Wieand S, Hale K, et al.: Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 286 (18): 2251-6, 2001. [PUBMED Abstract]
94. Narod SA, Brunet JS, Ghadirian P, et al.: Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356 (9245): 1876-81, 2000. [PUBMED Abstract]
95. Pierce LJ, Levin AM, Rebbeck TR, et al.: Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 24 (16): 2437-43, 2006. [PUBMED Abstract]
96. Gronwald J, Tung N, Foulkes WD, et al.: Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118 (9): 2281-4, 2006. [PUBMED Abstract]
97. Phillips KA, Milne RL, Rookus MA, et al.: Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol 31 (25): 3091-9, 2013. [PUBMED Abstract]
98. Vogel VG, Costantino JP, Wickerham DL, et al.: Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA 295 (23): 2727-41, 2006. [PUBMED Abstract]
99. Land SR, Wickerham DL, Costantino JP, et al.: Patient-reported symptoms and quality of life during treatment with tamoxifen or raloxifene for breast cancer prevention: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA 295 (23): 2742-51, 2006. [PUBMED Abstract]
100. Reding KW, Bernstein JL, Langholz BM, et al.: Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer. Breast Cancer Res Treat 123 (2): 491-8, 2010. [PUBMED Abstract]
101. Vicus D, Rosen B, Lubinski J, et al.: Tamoxifen and the risk of ovarian cancer in BRCA1 mutation carriers. Gynecol Oncol 115 (1): 135-7, 2009. [PUBMED Abstract]
102. Colditz GA, Rosner BA, Speizer FE: Risk factors for breast cancer according to family history of breast cancer. For the Nurses' Health Study Research Group. J Natl Cancer Inst 88 (6): 365-71, 1996. [PUBMED Abstract]
103. Narod S, Lynch H, Conway T, et al.: Increasing incidence of breast cancer in family with BRCA1 mutation. Lancet 341 (8852): 1101-2, 1993. [PUBMED Abstract]
104. Narod SA, Goldgar D, Cannon-Albright L, et al.: Risk modifiers in carriers of BRCA1 mutations. Int J Cancer 64 (6): 394-8, 1995. [PUBMED Abstract]
105. McCredie M, Paul C, Skegg DC, et al.: Family history and risk of breast cancer in New Zealand. Int J Cancer 73 (4): 503-7, 1997. [PUBMED Abstract]
106. Jernström H, Lerman C, Ghadirian P, et al.: Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet 354 (9193): 1846-50, 1999. [PUBMED Abstract]
107. Cullinane CA, Lubinski J, Neuhausen SL, et al.: Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 117 (6): 988-91, 2005. [PUBMED Abstract]
108. Friedman E, Kotsopoulos J, Lubinski J, et al.: Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res 8 (2): R15, 2006. [PUBMED Abstract]
109. Milne RL, Osorio A, Ramón y Cajal T, et al.: Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 119 (1): 221-32, 2010. [PUBMED Abstract]
110. Antoniou AC, Shenton A, Maher ER, et al.: Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 8 (6): R72, 2006. [PUBMED Abstract]
111. Andrieu N, Goldgar DE, Easton DF, et al.: Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst 98 (8): 535-44, 2006. [PUBMED Abstract]
112. Col: Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50302 women with breast cancer and 96973 women without the disease. Lancet 360 (9328): 187-95, 2002. [PUBMED Abstract]
113. Jernström H, Lubinski J, Lynch HT, et al.: Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 96 (14): 1094-8, 2004. [PUBMED Abstract]
114. Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53 297 women with breast cancer and 100 239 women without breast cancer from 54 epidemiological studies. Collaborative Group on Hormonal Factors in Breast Cancer. Lancet 347 (9017): 1713-27, 1996. [PUBMED Abstract]
115. Ursin G, Henderson BE, Haile RW, et al.: Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res 57 (17): 3678-81, 1997. [PUBMED Abstract]
116. Jernström H, Loman N, Johannsson OT, et al.: Impact of teenage oral contraceptive use in a population-based series of early-onset breast cancer cases who have undergone BRCA mutation testing. Eur J Cancer 41 (15): 2312-20, 2005. [PUBMED Abstract]
117. Iodice S, Barile M, Rotmensz N, et al.: Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer 46 (12): 2275-84, 2010. [PUBMED Abstract]
118. Brohet RM, Goldgar DE, Easton DF, et al.: Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol 25 (25): 3831-6, 2007. [PUBMED Abstract]
119. Haile RW, Thomas DC, McGuire V, et al.: BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiol Biomarkers Prev 15 (10): 1863-70, 2006. [PUBMED Abstract]
120. Narod SA, Dubé MP, Klijn J, et al.: Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 94 (23): 1773-9, 2002. [PUBMED Abstract]
121. Kotsopoulos J, Lubinski J, Moller P, et al.: Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. Breast Cancer Res Treat 143 (3): 579-86, 2014. [PUBMED Abstract]
122. Narod SA, Risch H, Moslehi R, et al.: Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 339 (7): 424-8, 1998. [PUBMED Abstract]
123. Chen CL, Weiss NS, Newcomb P, et al.: Hormone replacement therapy in relation to breast cancer. JAMA 287 (6): 734-41, 2002. [PUBMED Abstract]
124. Writing Group for the Women's Health Initiative Investigators: Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. JAMA 288 (3): 321-33, 2002. [PUBMED Abstract]
125. Chlebowski RT, Hendrix SL, Langer RD, et al.: Influence of estrogen plus progestin on breast cancer and mammography in healthy postmenopausal women: the Women's Health Initiative Randomized Trial. JAMA 289 (24): 3243-53, 2003. [PUBMED Abstract]
126. Chlebowski RT, Kuller LH, Prentice RL, et al.: Breast cancer after use of estrogen plus progestin in postmenopausal women. N Engl J Med 360 (6): 573-87, 2009. [PUBMED Abstract]
127. Schuurman AG, van den Brandt PA, Goldbohm RA: Exogenous hormone use and the risk of postmenopausal breast cancer: results from The Netherlands Cohort Study. Cancer Causes Control 6 (5): 416-24, 1995. [PUBMED Abstract]
128. Steinberg KK, Thacker SB, Smith SJ, et al.: A meta-analysis of the effect of estrogen replacement therapy on the risk of breast cancer. JAMA 265 (15): 1985-90, 1991. [PUBMED Abstract]
129. Colditz GA, Egan KM, Stampfer MJ: Hormone replacement therapy and risk of breast cancer: results from epidemiologic studies. Am J Obstet Gynecol 168 (5): 1473-80, 1993. [PUBMED Abstract]
130. Sellers TA, Mink PJ, Cerhan JR, et al.: The role of hormone replacement therapy in the risk for breast cancer and total mortality in women with a family history of breast cancer. Ann Intern Med 127 (11): 973-80, 1997. [PUBMED Abstract]
131. Stanford JL, Weiss NS, Voigt LF, et al.: Combined estrogen and progestin hormone replacement therapy in relation to risk of breast cancer in middle-aged women. JAMA 274 (2): 137-42, 1995. [PUBMED Abstract]
132. Gorsky RD, Koplan JP, Peterson HB, et al.: Relative risks and benefits of long-term estrogen replacement therapy: a decision analysis. Obstet Gynecol 83 (2): 161-6, 1994. [PUBMED Abstract]
133. Rebbeck TR, Friebel T, Wagner T, et al.: Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 23 (31): 7804-10, 2005. [PUBMED Abstract]
134. Eisen A, Lubinski J, Gronwald J, et al.: Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 100 (19): 1361-7, 2008. [PUBMED Abstract]
135. Kotsopoulos J, Huzarski T, Gronwald J, et al.: Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study. Breast Cancer Res Treat 155 (2): 365-73, 2016. [PUBMED Abstract]
136. Chlebowski RT, Prentice RL: Menopausal hormone therapy in BRCA1 mutation carriers: uncertainty and caution. J Natl Cancer Inst 100 (19): 1341-3, 2008. [PUBMED Abstract]
137. Buys SS, Partridge E, Black A, et al.: Effect of screening on ovarian cancer mortality: the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Randomized Controlled Trial. JAMA 305 (22): 2295-303, 2011. [PUBMED Abstract]
138. Hermsen BB, Olivier RI, Verheijen RH, et al.: No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study. Br J Cancer 96 (9): 1335-42, 2007. [PUBMED Abstract]
139. Stirling D, Evans DG, Pichert G, et al.: Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. J Clin Oncol 23 (24): 5588-96, 2005. [PUBMED Abstract]
140. Olivier RI, Lubsen-Brandsma MA, Verhoef S, et al.: CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer. Gynecol Oncol 100 (1): 20-6, 2006. [PUBMED Abstract]
141. Meeuwissen PA, Seynaeve C, Brekelmans CT, et al.: Outcome of surveillance and prophylactic salpingo-oophorectomy in asymptomatic women at high risk for ovarian cancer. Gynecol Oncol 97 (2): 476-82, 2005. [PUBMED Abstract]
142. Dørum A, Kristensen GB, Abeler VM, et al.: Early detection of familial ovarian cancer. Eur J Cancer 32A (10): 1645-51, 1996. [PUBMED Abstract]
143. Tailor A, Bourne TH, Campbell S, et al.: Results from an ultrasound-based familial ovarian cancer screening clinic: a 10-year observational study. Ultrasound Obstet Gynecol 21 (4): 378-85, 2003. [PUBMED Abstract]
144. Karlan BY, Raffel LJ, Crvenkovic G, et al.: A multidisciplinary approach to the early detection of ovarian carcinoma: rationale, protocol design, and early results. Am J Obstet Gynecol 169 (3): 494-501, 1993. [PUBMED Abstract]
145. Muto MG, Cramer DW, Brown DL, et al.: Screening for ovarian cancer: the preliminary experience of a familial ovarian cancer center. Gynecol Oncol 51 (1): 12-20, 1993. [PUBMED Abstract]
146. Liede A, Karlan BY, Baldwin RL, et al.: Cancer incidence in a population of Jewish women at risk of ovarian cancer. J Clin Oncol 20 (6): 1570-7, 2002. [PUBMED Abstract]
147. Laframboise S, Nedelcu R, Murphy J, et al.: Use of CA-125 and ultrasound in high-risk women. Int J Gynecol Cancer 12 (1): 86-91, 2002 Jan-Feb. [PUBMED Abstract]
148. Woodward ER, Sleightholme HV, Considine AM, et al.: Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high-risk and population risk women is ineffective. BJOG 114 (12): 1500-9, 2007. [PUBMED Abstract]
149. van der Velde NM, Mourits MJ, Arts HJ, et al.: Time to stop ovarian cancer screening in BRCA1/2 mutation carriers? Int J Cancer 124 (4): 919-23, 2009. [PUBMED Abstract]
150. Rosenthal AN, Fraser L, Manchanda R, et al.: Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule. J Clin Oncol 31 (1): 49-57, 2013. [PUBMED Abstract]
151. Evans DG, Gaarenstroom KN, Stirling D, et al.: Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet 46 (9): 593-7, 2009. [PUBMED Abstract]
152. NIH consensus conference. Ovarian cancer. Screening, treatment, and follow-up. NIH Consensus Development Panel on Ovarian Cancer. JAMA 273 (6): 491-7, 1995. [PUBMED Abstract]
153. Pepe MS, Etzioni R, Feng Z, et al.: Phases of biomarker development for early detection of cancer. J Natl Cancer Inst 93 (14): 1054-61, 2001. [PUBMED Abstract]
154. Grosse SD, Khoury MJ: What is the clinical utility of genetic testing? Genet Med 8 (7): 448-50, 2006. [PUBMED Abstract]
155. Finch A, Shaw P, Rosen B, et al.: Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers. Gynecol Oncol 100 (1): 58-64, 2006. [PUBMED Abstract]
156. Andersen MR, Goff BA, Lowe KA, et al.: Combining a symptoms index with CA 125 to improve detection of ovarian cancer. Cancer 113 (3): 484-9, 2008. [PUBMED Abstract]
157. Skates SJ, Xu FJ, Yu YH, et al.: Toward an optimal algorithm for ovarian cancer screening with longitudinal tumor markers. Cancer 76 (10 Suppl): 2004-10, 1995. [PUBMED Abstract]
158. Skates SJ, Menon U, MacDonald N, et al.: Calculation of the risk of ovarian cancer from serial CA-125 values for preclinical detection in postmenopausal women. J Clin Oncol 21 (10 Suppl): 206s-210s, 2003. [PUBMED Abstract]
159. Menon U, Skates SJ, Lewis S, et al.: Prospective study using the risk of ovarian cancer algorithm to screen for ovarian cancer. J Clin Oncol 23 (31): 7919-26, 2005. [PUBMED Abstract]
160. Greene MH, Piedmonte M, Alberts D, et al.: A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: design and baseline characteristics: a Gynecologic Oncology Group study. Cancer Epidemiol Biomarkers Prev 17 (3): 594-604, 2008. [PUBMED Abstract]
161. Gagnon A, Ye B: Discovery and application of protein biomarkers for ovarian cancer. Curr Opin Obstet Gynecol 20 (1): 9-13, 2008. [PUBMED Abstract]
162. Hennessy BT, Murph M, Nanjundan M, et al.: Ovarian cancer: linking genomics to new target discovery and molecular markers--the way ahead. Adv Exp Med Biol 617: 23-40, 2008. [PUBMED Abstract]
163. Badgwell D, Bast RC: Early detection of ovarian cancer. Dis Markers 23 (5-6): 397-410, 2007. [PUBMED Abstract]
164. Petricoin EF, Ardekani AM, Hitt BA, et al.: Use of proteomic patterns in serum to identify ovarian cancer. Lancet 359 (9306): 572-7, 2002. [PUBMED Abstract]
165. Zhang Z, Bast RC, Yu Y, et al.: Three biomarkers identified from serum proteomic analysis for the detection of early stage ovarian cancer. Cancer Res 64 (16): 5882-90, 2004. [PUBMED Abstract]
166. Koehn H, Oehler MK: Proteins' promise--progress and challenges in ovarian cancer proteomics. Menopause Int 13 (4): 148-53, 2007. [PUBMED Abstract]
167. Visintin I, Feng Z, Longton G, et al.: Diagnostic markers for early detection of ovarian cancer. Clin Cancer Res 14 (4): 1065-72, 2008. [PUBMED Abstract]
168. Simon R: Roadmap for developing and validating therapeutically relevant genomic classifiers. J Clin Oncol 23 (29): 7332-41, 2005. [PUBMED Abstract]
169. Rutter JL, Wacholder S, Chetrit A, et al.: Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. J Natl Cancer Inst 95 (14): 1072-8, 2003. [PUBMED Abstract]
170. Kotsopoulos J, Lubinski J, Lynch HT, et al.: Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21 (7): 1089-96, 2012. [PUBMED Abstract]
171. Sherman ME, Piedmonte M, Mai PL, et al.: Pathologic findings at risk-reducing salpingo-oophorectomy: primary results from Gynecologic Oncology Group Trial GOG-0199. J Clin Oncol 32 (29): 3275-83, 2014. [PUBMED Abstract]
172. Domchek SM, Friebel TM, Neuhausen SL, et al.: Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 7 (3): 223-9, 2006. [PUBMED Abstract]
173. Leeper K, Garcia R, Swisher E, et al.: Pathologic findings in prophylactic oophorectomy specimens in high-risk women. Gynecol Oncol 87 (1): 52-6, 2002. [PUBMED Abstract]
174. Olivier RI, van Beurden M, Lubsen MA, et al.: Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up. Br J Cancer 90 (8): 1492-7, 2004. [PUBMED Abstract]
175. Colgan TJ, Murphy J, Cole DE, et al.: Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status. Am J Surg Pathol 25 (10): 1283-9, 2001. [PUBMED Abstract]
176. Powell CB, Kenley E, Chen LM, et al.: Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 23 (1): 127-32, 2005. [PUBMED Abstract]
177. Callahan MJ, Crum CP, Medeiros F, et al.: Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction. J Clin Oncol 25 (25): 3985-90, 2007. [PUBMED Abstract]
178. Domchek SM, Friebel TM, Garber JE, et al.: Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. Breast Cancer Res Treat 124 (1): 195-203, 2010. [PUBMED Abstract]
179. Powell CB, Chen LM, McLennan J, et al.: Risk-reducing salpingo-oophorectomy (RRSO) in BRCA mutation carriers: experience with a consecutive series of 111 patients using a standardized surgical-pathological protocol. Int J Gynecol Cancer 21 (5): 846-51, 2011. [PUBMED Abstract]
180. Piek JM, van Diest PJ, Zweemer RP, et al.: Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer. J Pathol 195 (4): 451-6, 2001. [PUBMED Abstract]
181. Paley PJ, Swisher EM, Garcia RL, et al.: Occult cancer of the fallopian tube in BRCA-1 germline mutation carriers at prophylactic oophorectomy: a case for recommending hysterectomy at surgical prophylaxis. Gynecol Oncol 80 (2): 176-80, 2001. [PUBMED Abstract]
182. Rose PG, Shrigley R, Wiesner GL: Germline BRCA2 mutation in a patient with fallopian tube carcinoma: a case report. Gynecol Oncol 77 (2): 319-20, 2000. [PUBMED Abstract]
183. Zweemer RP, van Diest PJ, Verheijen RH, et al.: Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations. Gynecol Oncol 76 (1): 45-50, 2000. [PUBMED Abstract]
184. Piek JM, Torrenga B, Hermsen B, et al.: Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study. Fam Cancer 2 (2): 73-8, 2003. [PUBMED Abstract]
185. Levine DA, Argenta PA, Yee CJ, et al.: Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 21 (22): 4222-7, 2003. [PUBMED Abstract]
186. Aziz S, Kuperstein G, Rosen B, et al.: A genetic epidemiological study of carcinoma of the fallopian tube. Gynecol Oncol 80 (3): 341-5, 2001. [PUBMED Abstract]
187. Kindelberger DW, Lee Y, Miron A, et al.: Intraepithelial carcinoma of the fimbria and pelvic serous carcinoma: Evidence for a causal relationship. Am J Surg Pathol 31 (2): 161-9, 2007. [PUBMED Abstract]
188. Rabban JT, Krasik E, Chen LM, et al.: Multistep level sections to detect occult fallopian tube carcinoma in risk-reducing salpingo-oophorectomies from women with BRCA mutations: implications for defining an optimal specimen dissection protocol. Am J Surg Pathol 33 (12): 1878-85, 2009. [PUBMED Abstract]
189. Society of Gynecologic Oncologists Clinical Practice Committee Statement on Prophylactic Salpingo-oophorectomy. Gynecol Oncol 98 (2): 179-81, 2005. [PUBMED Abstract]
190. Chen KT, Schooley JL, Flam MS: Peritoneal carcinomatosis after prophylactic oophorectomy in familial ovarian cancer syndrome. Obstet Gynecol 66 (3 Suppl): 93S-94S, 1985. [PUBMED Abstract]
191. Lynch HT, Bewtra C, Lynch JF: Familial ovarian carcinoma. Clinical nuances. Am J Med 81 (6): 1073-6, 1986. [PUBMED Abstract]
192. Lynch HT, Watson P, Bewtra C, et al.: Hereditary ovarian cancer. Heterogeneity in age at diagnosis. Cancer 67 (5): 1460-6, 1991. [PUBMED Abstract]
193. Tobacman JK, Greene MH, Tucker MA, et al.: Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian-cancer-prone families. Lancet 2 (8302): 795-7, 1982. [PUBMED Abstract]
194. Truong LD, Maccato ML, Awalt H, et al.: Serous surface carcinoma of the peritoneum: a clinicopathologic study of 22 cases. Hum Pathol 21 (1): 99-110, 1990. [PUBMED Abstract]
195. Piver MS, Jishi MF, Tsukada Y, et al.: Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer 71 (9): 2751-5, 1993. [PUBMED Abstract]
196. Casey MJ, Synder C, Bewtra C, et al.: Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. Gynecol Oncol 97 (2): 457-67, 2005. [PUBMED Abstract]
197. Finch A, Beiner M, Lubinski J, et al.: Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 296 (2): 185-92, 2006. [PUBMED Abstract]
198. Powell CB, Swisher EM, Cass I, et al.: Long term follow up of BRCA1 and BRCA2 mutation carriers with unsuspected neoplasia identified at risk reducing salpingo-oophorectomy. Gynecol Oncol 129 (2): 364-71, 2013. [PUBMED Abstract]
199. Zakhour M, Danovitch Y, Lester J, et al.: Occult and subsequent cancer incidence following risk-reducing surgery in BRCA mutation carriers. Gynecol Oncol 143 (2): 231-235, 2016. [PUBMED Abstract]
200. Chen S, Iversen ES, Friebel T, et al.: Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24 (6): 863-71, 2006. [PUBMED Abstract]
201. Antoniou A, Pharoah PD, Narod S, et al.: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72 (5): 1117-30, 2003. [PUBMED Abstract]
202. Risch HA, McLaughlin JR, Cole DE, et al.: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98 (23): 1694-706, 2006. [PUBMED Abstract]
203. Lavie O, Hornreich G, Ben-Arie A, et al.: BRCA germline mutations in Jewish women with uterine serous papillary carcinoma. Gynecol Oncol 92 (2): 521-4, 2004. [PUBMED Abstract]
204. Goshen R, Chu W, Elit L, et al.: Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? Gynecol Oncol 79 (3): 477-81, 2000. [PUBMED Abstract]
205. Beiner ME, Finch A, Rosen B, et al.: The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study. Gynecol Oncol 104 (1): 7-10, 2007. [PUBMED Abstract]
206. Segev Y, Iqbal J, Lubinski J, et al.: The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study. Gynecol Oncol 130 (1): 127-31, 2013. [PUBMED Abstract]
207. Levine DA, Lin O, Barakat RR, et al.: Risk of endometrial carcinoma associated with BRCA mutation. Gynecol Oncol 80 (3): 395-8, 2001. [PUBMED Abstract]
208. Karlan BY: Defining cancer risks for BRCA germline mutation carriers: implications for surgical prophylaxis. Gynecol Oncol 92 (2): 519-20, 2004. [PUBMED Abstract]
209. Biron-Shental T, Drucker L, Altaras M, et al.: High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol 32 (10): 1097-100, 2006. [PUBMED Abstract]
210. Lu KH, Kauff ND: Does a BRCA mutation plus tamoxifen equal hysterectomy? Gynecol Oncol 104 (1): 3-4, 2007. [PUBMED Abstract]
211. Madalinska JB, Hollenstein J, Bleiker E, et al.: Quality-of-life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer. J Clin Oncol 23 (28): 6890-8, 2005. [PUBMED Abstract]
212. Rocca WA, Grossardt BR, de Andrade M, et al.: Survival patterns after oophorectomy in premenopausal women: a population-based cohort study. Lancet Oncol 7 (10): 821-8, 2006. [PUBMED Abstract]
213. Rocca WA, Bower JH, Maraganore DM, et al.: Increased risk of parkinsonism in women who underwent oophorectomy before menopause. Neurology 70 (3): 200-9, 2008. [PUBMED Abstract]
214. Shuster LT, Rhodes DJ, Gostout BS, et al.: Premature menopause or early menopause: long-term health consequences. Maturitas 65 (2): 161-6, 2010. [PUBMED Abstract]
215. Parker WH, Broder MS, Chang E, et al.: Ovarian conservation at the time of hysterectomy and long-term health outcomes in the nurses' health study. Obstet Gynecol 113 (5): 1027-37, 2009. [PUBMED Abstract]
216. Rivera CM, Grossardt BR, Rhodes DJ, et al.: Increased cardiovascular mortality after early bilateral oophorectomy. Menopause 16 (1): 15-23, 2009 Jan-Feb. [PUBMED Abstract]
217. Michelsen TM, Pripp AH, Tonstad S, et al.: Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. Eur J Cancer 45 (1): 82-9, 2009. [PUBMED Abstract]
218. Greene MH, Mai PL, Schwartz PE: Does bilateral salpingectomy with ovarian retention warrant consideration as a temporary bridge to risk-reducing bilateral oophorectomy in BRCA1/2 mutation carriers? Am J Obstet Gynecol 204 (1): 19.e1-6, 2011. [PUBMED Abstract]
219. Dietl J, Wischhusen J, Häusler SF: The post-reproductive Fallopian tube: better removed? Hum Reprod 26 (11): 2918-24, 2011. [PUBMED Abstract]
220. Leblanc E, Narducci F, Farre I, et al.: Radical fimbriectomy: a reasonable temporary risk-reducing surgery for selected women with a germ line mutation of BRCA 1 or 2 genes? Rationale and preliminary development. Gynecol Oncol 121 (3): 472-6, 2011. [PUBMED Abstract]
221. Kwon JS, Tinker A, Pansegrau G, et al.: Prophylactic salpingectomy and delayed oophorectomy as an alternative for BRCA mutation carriers. Obstet Gynecol 121 (1): 14-24, 2013. [PUBMED Abstract]
222. Harmsen MG, IntHout J, Arts-de Jong M, et al.: Salpingectomy With Delayed Oophorectomy in BRCA1/2 Mutation Carriers: Estimating Ovarian Cancer Risk. Obstet Gynecol 127 (6): 1054-63, 2016. [PUBMED Abstract]
223. Nebgen DR, Hurteau J, Holman LL, et al.: Bilateral salpingectomy with delayed oophorectomy for ovarian cancer risk reduction: A pilot study in women with BRCA1/2 mutations. Gynecol Oncol 150 (1): 79-84, 2018. [PUBMED Abstract]
224. Collaborative Group on Epidemiological Studies of Ovarian Cancer, Beral V, Doll R, et al.: Ovarian cancer and oral contraceptives: collaborative reanalysis of data from 45 epidemiological studies including 23,257 women with ovarian cancer and 87,303 controls. Lancet 371 (9609): 303-14, 2008. [PUBMED Abstract]
225. Narod SA, Sun P, Ghadirian P, et al.: Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet 357 (9267): 1467-70, 2001. [PUBMED Abstract]
226. Whittemore AS, Balise RR, Pharoah PD, et al.: Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. Br J Cancer 91 (11): 1911-5, 2004. [PUBMED Abstract]
227. McGuire V, Felberg A, Mills M, et al.: Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. Am J Epidemiol 160 (7): 613-8, 2004. [PUBMED Abstract]
228. McLaughlin JR, Risch HA, Lubinski J, et al.: Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 8 (1): 26-34, 2007. [PUBMED Abstract]
229. Modan B, Hartge P, Hirsh-Yechezkel G, et al.: Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med 345 (4): 235-40, 2001. [PUBMED Abstract]
230. Kotsopoulos J, Lubinski J, Gronwald J, et al.: Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Int J Cancer 137 (5): 1136-46, 2015. [PUBMED Abstract]
231. Risch HA: Hormonal etiology of epithelial ovarian cancer, with a hypothesis concerning the role of androgens and progesterone. J Natl Cancer Inst 90 (23): 1774-86, 1998. [PUBMED Abstract]
232. Hankinson SE, Colditz GA, Hunter DJ, et al.: A prospective study of reproductive factors and risk of epithelial ovarian cancer. Cancer 76 (2): 284-90, 1995. [PUBMED Abstract]
233. Gronwald J, Byrski T, Huzarski T, et al.: Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland. Breast Cancer Res Treat 95 (2): 105-9, 2006. [PUBMED Abstract]
234. Whittemore AS, Harris R, Itnyre J: Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. IV. The pathogenesis of epithelial ovarian cancer. Collaborative Ovarian Cancer Group. Am J Epidemiol 136 (10): 1212-20, 1992. [PUBMED Abstract]
235. Miracle-McMahill HL, Calle EE, Kosinski AS, et al.: Tubal ligation and fatal ovarian cancer in a large prospective cohort study. Am J Epidemiol 145 (4): 349-57, 1997. [PUBMED Abstract]
236. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91 (15): 1310-6, 1999. [PUBMED Abstract]
237. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, et al.: Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 42 (9): 711-9, 2005. [PUBMED Abstract]
238. Risch HA, McLaughlin JR, Cole DE, et al.: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68 (3): 700-10, 2001. [PUBMED Abstract]
239. Liede A, Malik IA, Aziz Z, et al.: Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet 71 (3): 595-606, 2002. [PUBMED Abstract]
240. Moslehi R, Chu W, Karlan B, et al.: BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet 66 (4): 1259-72, 2000. [PUBMED Abstract]
241. Mohamad HB, Apffelstaedt JP: Counseling for male BRCA mutation carriers: a review. Breast 17 (5): 441-50, 2008. [PUBMED Abstract]
242. Liede A, Karlan BY, Narod SA: Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 22 (4): 735-42, 2004. [PUBMED Abstract]
243. Mitra A, Fisher C, Foster CS, et al.: Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. Br J Cancer 98 (2): 502-7, 2008. [PUBMED Abstract]
244. Tryggvadóttir L, Vidarsdóttir L, Thorgeirsson T, et al.: Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 99 (12): 929-35, 2007. [PUBMED Abstract]
245. Agalliu I, Gern R, Leanza S, et al.: Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. Clin Cancer Res 15 (3): 1112-20, 2009. [PUBMED Abstract]
246. Narod SA, Neuhausen S, Vichodez G, et al.: Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer 99 (2): 371-4, 2008. [PUBMED Abstract]
247. Edwards SM, Evans DG, Hope Q, et al.: Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. Br J Cancer 103 (6): 918-24, 2010. [PUBMED Abstract]
248. Gallagher DJ, Gaudet MM, Pal P, et al.: Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clin Cancer Res 16 (7): 2115-21, 2010. [PUBMED Abstract]
249. Schröder FH, Hugosson J, Roobol MJ, et al.: Screening and prostate-cancer mortality in a randomized European study. N Engl J Med 360 (13): 1320-8, 2009. [PUBMED Abstract]
250. Andriole GL, Grubb RL, Buys SS, et al.: Mortality results from a randomized prostate-cancer screening trial. N Engl J Med 360 (13): 1310-9, 2009. [PUBMED Abstract]
251. Fiorentino M, Judson G, Penney K, et al.: Immunohistochemical expression of BRCA1 and lethal prostate cancer. Cancer Res 70 (8): 3136-9, 2010. [PUBMED Abstract]
252. Horsburgh S, Matthew A, Bristow R, et al.: Male BRCA1 and BRCA2 mutation carriers: a pilot study investigating medical characteristics of patients participating in a prostate cancer prevention clinic. Prostate 65 (2): 124-9, 2005. [PUBMED Abstract]
253. Hubert A, Peretz T, Manor O, et al.: The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet 65 (3): 921-4, 1999. [PUBMED Abstract]
254. Mitra AV, Bancroft EK, Barbachano Y, et al.: Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int 107 (1): 28-39, 2011. [PUBMED Abstract]
255. Foulkes WD, Metcalfe K, Hanna W, et al.: Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma. Cancer 98 (8): 1569-77, 2003. [PUBMED Abstract]
256. Verhoog LC, Brekelmans CT, Seynaeve C, et al.: Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351 (9099): 316-21, 1998. [PUBMED Abstract]
257. Jóhannsson OT, Ranstam J, Borg A, et al.: Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 16 (2): 397-404, 1998. [PUBMED Abstract]
258. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, et al.: Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol 18 (24): 4053-9, 2000. [PUBMED Abstract]
259. Haffty BG, Harrold E, Khan AJ, et al.: Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 359 (9316): 1471-7, 2002. [PUBMED Abstract]
260. Robson M, Levin D, Federici M, et al.: Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 91 (24): 2112-7, 1999. [PUBMED Abstract]
261. Graeser MK, Engel C, Rhiem K, et al.: Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27 (35): 5887-92, 2009. [PUBMED Abstract]
262. van den Broek AJ, van 't Veer LJ, Hooning MJ, et al.: Impact of Age at Primary Breast Cancer on Contralateral Breast Cancer Risk in BRCA1/2 Mutation Carriers. J Clin Oncol 34 (5): 409-18, 2016. [PUBMED Abstract]
263. Menes TS, Terry MB, Goldgar D, et al.: Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. Breast Cancer Res Treat 151 (3): 653-60, 2015. [PUBMED Abstract]
264. Robson ME, Chappuis PO, Satagopan J, et al.: A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6 (1): R8-R17, 2004. [PUBMED Abstract]
265. Rennert G, Bisland-Naggan S, Barnett-Griness O, et al.: Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 357 (2): 115-23, 2007. [PUBMED Abstract]
266. Kriege M, Seynaeve C, Meijers-Heijboer H, et al.: Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27 (23): 3764-71, 2009. [PUBMED Abstract]
267. Goodwin PJ, Phillips KA, West DW, et al.: Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: an International Prospective Breast Cancer Family Registry population-based cohort study. J Clin Oncol 30 (1): 19-26, 2012. [PUBMED Abstract]
268. Copson ER, Maishman TC, Tapper WJ, et al.: Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. Lancet Oncol 19 (2): 169-180, 2018. [PUBMED Abstract]
269. Gonzalez-Angulo AM, Timms KM, Liu S, et al.: Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res 17 (5): 1082-9, 2011. [PUBMED Abstract]
270. Lee LJ, Alexander B, Schnitt SJ, et al.: Clinical outcome of triple negative breast cancer in BRCA1 mutation carriers and noncarriers. Cancer 117 (14): 3093-100, 2011. [PUBMED Abstract]
271. Tung N, Gaughan E, Hacker MR, et al.: Outcome of triple negative breast cancer: comparison of sporadic and BRCA1-associated cancers. Breast Cancer Res Treat 146 (1): 175-82, 2014. [PUBMED Abstract]
272. Huzarski T, Byrski T, Gronwald J, et al.: Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer. J Clin Oncol 31 (26): 3191-6, 2013. [PUBMED Abstract]
273. Verhoog LC, Berns EM, Brekelmans CT, et al.: Prognostic significance of germline BRCA2 mutations in hereditary breast cancer patients. J Clin Oncol 18 (21 Suppl): 119S-24S, 2000. [PUBMED Abstract]
274. Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, et al.: Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 43 (5): 867-76, 2007. [PUBMED Abstract]
275. Budroni M, Cesaraccio R, Coviello V, et al.: Role of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia. BMC Cancer 9: 62, 2009. [PUBMED Abstract]
276. Byrski T, Huzarski T, Dent R, et al.: Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 115 (2): 359-63, 2009. [PUBMED Abstract]
277. Chappuis PO, Goffin J, Wong N, et al.: A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 39 (8): 608-10, 2002. [PUBMED Abstract]
278. Byrski T, Gronwald J, Huzarski T, et al.: Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 28 (3): 375-9, 2010. [PUBMED Abstract]
279. Fourquet A, Stoppa-Lyonnet D, Kirova YM, et al.: Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status. Am J Clin Oncol 32 (2): 127-31, 2009. [PUBMED Abstract]
280. Arun B, Bayraktar S, Liu DD, et al.: Response to neoadjuvant systemic therapy for breast cancer in BRCA mutation carriers and noncarriers: a single-institution experience. J Clin Oncol 29 (28): 3739-46, 2011. [PUBMED Abstract]
281. Byrski T, Gronwald J, Huzarski T, et al.: Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 108 (2): 289-96, 2008. [PUBMED Abstract]
282. Silver DP, Richardson AL, Eklund AC, et al.: Efficacy of neoadjuvant Cisplatin in triple-negative breast cancer. J Clin Oncol 28 (7): 1145-53, 2010. [PUBMED Abstract]
283. Hahnen E, Lederer B, Hauke J, et al.: Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol 3 (10): 1378-1385, 2017. [PUBMED Abstract]
284. Tutt A, Tovey H, Cheang MCU, et al.: Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. Nat Med 24 (5): 628-637, 2018. [PUBMED Abstract]
285. Robson M, Im SA, Senkus E, et al.: Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N Engl J Med 377 (6): 523-533, 2017. [PUBMED Abstract]
286. Litton JK, Rugo HS, Ettl J, et al.: Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. N Engl J Med 379 (8): 753-763, 2018. [PUBMED Abstract]
287. Leong T, Whitty J, Keilar M, et al.: Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients. Int J Radiat Oncol Biol Phys 48 (4): 959-65, 2000. [PUBMED Abstract]
288. Pierce LJ, Strawderman M, Narod SA, et al.: Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 18 (19): 3360-9, 2000. [PUBMED Abstract]
289. Shanley S, McReynolds K, Ardern-Jones A, et al.: Late toxicity is not increased in BRCA1/BRCA2 mutation carriers undergoing breast radiotherapy in the United Kingdom. Clin Cancer Res 12 (23): 7025-32, 2006. [PUBMED Abstract]
290. Pierce LJ, Phillips KA, Griffith KA, et al.: Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy. Breast Cancer Res Treat 121 (2): 389-98, 2010. [PUBMED Abstract]
291. Kirova YM, Savignoni A, Sigal-Zafrani B, et al.: Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature. Breast Cancer Res Treat 120 (1): 119-26, 2010. [PUBMED Abstract]
292. Metcalfe K, Lynch HT, Ghadirian P, et al.: Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 127 (1): 287-96, 2011. [PUBMED Abstract]
293. Bernstein JL, Thomas DC, Shore RE, et al.: Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report. Eur J Cancer 49 (14): 2979-85, 2013. [PUBMED Abstract]
294. Rubin SC, Benjamin I, Behbakht K, et al.: Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 335 (19): 1413-6, 1996. [PUBMED Abstract]
295. Ben David Y, Chetrit A, Hirsh-Yechezkel G, et al.: Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 20 (2): 463-6, 2002. [PUBMED Abstract]
296. Jazaeri AA, Yee CJ, Sotiriou C, et al.: Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers. J Natl Cancer Inst 94 (13): 990-1000, 2002. [PUBMED Abstract]
297. Cass I, Baldwin RL, Varkey T, et al.: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97 (9): 2187-95, 2003. [PUBMED Abstract]
298. Aida H, Takakuwa K, Nagata H, et al.: Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1. Clin Cancer Res 4 (1): 235-40, 1998. [PUBMED Abstract]
299. Boyd J, Sonoda Y, Federici MG, et al.: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 283 (17): 2260-5, 2000. [PUBMED Abstract]
300. Tan DS, Rothermundt C, Thomas K, et al.: "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 26 (34): 5530-6, 2008. [PUBMED Abstract]
301. Hyman DM, Zhou Q, Iasonos A, et al.: Improved survival for BRCA2-associated serous ovarian cancer compared with both BRCA-negative and BRCA1-associated serous ovarian cancer. Cancer 118 (15): 3703-9, 2012. [PUBMED Abstract]
302. Liu J, Cristea MC, Frankel P, et al.: Clinical characteristics and outcomes of BRCA-associated ovarian cancer: genotype and survival. Cancer Genet 205 (1-2): 34-41, 2012 Jan-Feb. [PUBMED Abstract]
303. Chetrit A, Hirsh-Yechezkel G, Ben-David Y, et al.: Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J Clin Oncol 26 (1): 20-5, 2008. [PUBMED Abstract]
304. Lacour RA, Westin SN, Meyer LA, et al.: Improved survival in non-Ashkenazi Jewish ovarian cancer patients with BRCA1 and BRCA2 gene mutations. Gynecol Oncol 121 (2): 358-63, 2011. [PUBMED Abstract]
305. Vencken PM, Kriege M, Hoogwerf D, et al.: Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients. Ann Oncol 22 (6): 1346-52, 2011. [PUBMED Abstract]
306. Pal T, Permuth-Wey J, Kapoor R, et al.: Improved survival in BRCA2 carriers with ovarian cancer. Fam Cancer 6 (1): 113-9, 2007. [PUBMED Abstract]
307. Yang D, Khan S, Sun Y, et al.: Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. JAMA 306 (14): 1557-65, 2011. [PUBMED Abstract]
308. Bolton KL, Chenevix-Trench G, Goh C, et al.: Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA 307 (4): 382-90, 2012. [PUBMED Abstract]
309. Zweemer RP, Verheijen RH, Coebergh JW, et al.: Survival analysis in familial ovarian cancer, a case control study. Eur J Obstet Gynecol Reprod Biol 98 (2): 219-23, 2001. [PUBMED Abstract]
310. Pharoah PD, Easton DF, Stockton DL, et al.: Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res 59 (4): 868-71, 1999. [PUBMED Abstract]
311. Buller RE, Shahin MS, Geisler JP, et al.: Failure of BRCA1 dysfunction to alter ovarian cancer survival. Clin Cancer Res 8 (5): 1196-202, 2002. [PUBMED Abstract]
312. McLaughlin JR, Rosen B, Moody J, et al.: Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2. J Natl Cancer Inst 105 (2): 141-8, 2013. [PUBMED Abstract]
313. Yang H, Jeffrey PD, Miller J, et al.: BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 297 (5588): 1837-48, 2002. [PUBMED Abstract]
314. Xu X, Weaver Z, Linke SP, et al.: Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol Cell 3 (3): 389-95, 1999. [PUBMED Abstract]
315. Cancer Genome Atlas Research Network: Integrated genomic analyses of ovarian carcinoma. Nature 474 (7353): 609-15, 2011. [PUBMED Abstract]
316. Husain A, He G, Venkatraman ES, et al.: BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res 58 (6): 1120-3, 1998. [PUBMED Abstract]
317. Pennington KP, Walsh T, Harrell MI, et al.: Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res 20 (3): 764-75, 2014. [PUBMED Abstract]
318. Norquist BM, Brady MF, Harrell MI, et al.: Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study. Clin Cancer Res 24 (4): 777-783, 2018. [PUBMED Abstract]
319. Fong PC, Boss DS, Yap TA, et al.: Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361 (2): 123-34, 2009. [PUBMED Abstract]
320. Audeh MW, Carmichael J, Penson RT, et al.: Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 376 (9737): 245-51, 2010. [PUBMED Abstract]
321. Fong PC, Yap TA, Boss DS, et al.: Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval. J Clin Oncol 28 (15): 2512-9, 2010. [PUBMED Abstract]
322. Hennessy BT, Timms KM, Carey MS, et al.: Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer. J Clin Oncol 28 (22): 3570-6, 2010. [PUBMED Abstract]
323. Kaufman B, Shapira-Frommer R, Schmutzler RK, et al.: Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33 (3): 244-50, 2015. [PUBMED Abstract]
324. Domchek SM, Aghajanian C, Shapira-Frommer R, et al.: Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Gynecol Oncol 140 (2): 199-203, 2016. [PUBMED Abstract]
325. Oza AM, Cibula D, Benzaquen AO, et al.: Olaparib combined with chemotherapy for recurrent platinum-sensitive ovarian cancer: a randomised phase 2 trial. Lancet Oncol 16 (1): 87-97, 2015. [PUBMED Abstract]
326. Liu JF, Barry WT, Birrer M, et al.: Combination cediranib and olaparib versus olaparib alone for women with recurrent platinum-sensitive ovarian cancer: a randomised phase 2 study. Lancet Oncol 15 (11): 1207-14, 2014. [PUBMED Abstract]
327. Kaye SB, Lubinski J, Matulonis U, et al.: Phase II, open-label, randomized, multicenter study comparing the efficacy and safety of olaparib, a poly (ADP-ribose) polymerase inhibitor, and pegylated liposomal doxorubicin in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer. J Clin Oncol 30 (4): 372-9, 2012. [PUBMED Abstract]
328. Adams SF, Marsh EB, Elmasri W, et al.: A high response rate to liposomal doxorubicin is seen among women with BRCA mutations treated for recurrent epithelial ovarian cancer. Gynecol Oncol 123 (3): 486-91, 2011. [PUBMED Abstract]
329. Safra T, Borgato L, Nicoletto MO, et al.: BRCA mutation status and determinant of outcome in women with recurrent epithelial ovarian cancer treated with pegylated liposomal doxorubicin. Mol Cancer Ther 10 (10): 2000-7, 2011. [PUBMED Abstract]
330. Gelmon KA, Tischkowitz M, Mackay H, et al.: Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study. Lancet Oncol 12 (9): 852-61, 2011. [PUBMED Abstract]
331. Ledermann J, Harter P, Gourley C, et al.: Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N Engl J Med 366 (15): 1382-92, 2012. [PUBMED Abstract]
332. Ledermann J, Harter P, Gourley C, et al.: Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol 15 (8): 852-61, 2014. [PUBMED Abstract]
333. Matulonis UA, Harter P, Gourley C, et al.: Olaparib maintenance therapy in patients with platinum-sensitive, relapsed serous ovarian cancer and a BRCA mutation: Overall survival adjusted for postprogression poly(adenosine diphosphate ribose) polymerase inhibitor therapy. Cancer 122 (12): 1844-52, 2016. [PUBMED Abstract]
334. Ledermann JA, Harter P, Gourley C, et al.: Overall survival in patients with platinum-sensitive recurrent serous ovarian cancer receiving olaparib maintenance monotherapy: an updated analysis from a randomised, placebo-controlled, double-blind, phase 2 trial. Lancet Oncol 17 (11): 1579-1589, 2016. [PUBMED Abstract]
335. Pujade-Lauraine E, Ledermann JA, Selle F, et al.: Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial. Lancet Oncol 18 (9): 1274-1284, 2017. [PUBMED Abstract]
336. Moore K, Colombo N, Scambia G, et al.: Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer. N Engl J Med 379 (26): 2495-2505, 2018. [PUBMED Abstract]
337. Drew Y, Ledermann J, Hall G, et al.: Phase 2 multicentre trial investigating intermittent and continuous dosing schedules of the poly(ADP-ribose) polymerase inhibitor rucaparib in germline BRCA mutation carriers with advanced ovarian and breast cancer. Br J Cancer 114 (7): 723-30, 2016. [PUBMED Abstract]
338. Kristeleit R, Shapiro GI, Burris HA, et al.: A Phase I-II Study of the Oral PARP Inhibitor Rucaparib in Patients with Germline BRCA1/2-Mutated Ovarian Carcinoma or Other Solid Tumors. Clin Cancer Res 23 (15): 4095-4106, 2017. [PUBMED Abstract]
339. Swisher EM, Lin KK, Oza AM, et al.: Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial. Lancet Oncol 18 (1): 75-87, 2017. [PUBMED Abstract]
340. Coleman RL, Oza AM, Lorusso D, et al.: Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 390 (10106): 1949-1961, 2017. [PUBMED Abstract]
341. Sandhu SK, Schelman WR, Wilding G, et al.: The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. Lancet Oncol 14 (9): 882-92, 2013. [PUBMED Abstract]
342. Mirza MR, Monk BJ, Herrstedt J, et al.: Niraparib Maintenance Therapy in Platinum-Sensitive, Recurrent Ovarian Cancer. N Engl J Med 375 (22): 2154-2164, 2016. [PUBMED Abstract]
343. Moore KN, Secord AA, Geller MA, et al.: Niraparib monotherapy for late-line treatment of ovarian cancer (QUADRA): a multicentre, open-label, single-arm, phase 2 trial. Lancet Oncol 20 (5): 636-648, 2019. [PUBMED Abstract]
344. Hampel H, Bennett RL, Buchanan A, et al.: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17 (1): 70-87, 2015. [PUBMED Abstract]
345. Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology: Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol 130 (3): e110-e126, 2017. [PUBMED Abstract]
346. Robson ME, Bradbury AR, Arun B, et al.: American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol 33 (31): 3660-7, 2015. [PUBMED Abstract]
347. Paluch-Shimon S, Cardoso F, Sessa C, et al.: Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann Oncol 27 (suppl 5): v103-v110, 2016. [PUBMED Abstract]
348. American College of Surgeons: National Accreditation Program for Breast Centers Standards Manual 2014 Edition. Chicago, IL: American College of Surgeons, 2014. Available online.Exit Disclaimer Last accessed January 22, 2020.
349. Berliner JL, Fay AM, Cummings SA, et al.: NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22 (2): 155-63, 2013. [PUBMED Abstract]
350. Lancaster JM, Powell CB, Chen LM, et al.: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 136 (1): 3-7, 2015. [PUBMED Abstract]
351. Owens DK, Davidson KW, Krist AH, et al.: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA 322 (7): 652-665, 2019. [PUBMED Abstract]