viernes, 19 de abril de 2019

Genetics of Breast and Gynecologic Cancers (PDQ®) 9/10 —Health Professional Version - National Cancer Institute

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

National Cancer Institute



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



BRCA2-related breast cancer
Early studies of the prognosis of BRCA2-associated breast cancer have not shown substantial differences in comparison with sporadic breast cancer.[263,271-273] A small study reported statistically significant higher OS in carriers of BRCA2 pathogenic variants with metastatic breast cancer.[264]
Systemic therapy in breast cancer treatment
Role of BRCA1 and BRCA2 in response to systemic therapy
A growing body of preclinical and clinical literature suggests a differential response of BRCA-related breast cancers to systemic chemotherapy. This is based on the emerging understanding of the functions of these genes in response to DNA damage and mitotic spindle machinery control. As several chemotherapeutic agents target either DNA or mitotic spindle structural integrity, the lack of BRCA functions could alter response to these agents. Intact BRCA1 and BRCA2 are important in DNA repair by homologous recombination. Preclinical studies of BRCA1- and BRCA2-deficient cell lines have suggested increased sensitivity to drugs that cause DNA damage that is repaired by homologous recombination, such as cisplatin, carboplatin and mitomycin C.[274,275] Conversely, intact BRCA1 may be important for spindle poisons, such as taxanes, to be effective.[276,277] Preclinical models suggest decreased sensitivity to these drugs in mutated cell lines.[278,279]
Evidence of the role of BRCA1/BRCA2 pathogenic variants in humans is evolving. A number of small studies have suggested increased clinical response rates, particularly in carriers of BRCA1 pathogenic variants, but design limitations make it difficult to use these studies to guide clinical recommendations.
Retrospective and prospective studies [280-284] have suggested a higher-than-expected response rate to chemotherapy in carriers of BRCA1 pathogenic variants receiving neoadjuvant chemotherapy for breast cancer, especially when using cisplatin.[282] Several studies regarding the Polish experience on the use of preoperative chemotherapy in carriers of BRCA1 pathogenic variants have been published. The largest report [282] includes data on 102 carriers of BRCA1 pathogenic variants of which 51 were described in two prior studies.[285,280] Women were identified from a registry of 6,903 patients. Those with a Polish founder pathogenic variant in BRCA1 (5382insC, C61G, or 4153delA) who had also received preoperative chemotherapy were included. Of these 102 women, 22% had a pathologic complete response (pCR). Twelve women received cisplatin chemotherapy as part of a clinical trial, ten of whom had a pCR (83%). All other patients were examined retrospectively. Of these, 14 received cyclophosphamide, methotrexate, and fluorouracil with one pCR (7%), 25 received doxorubicin and docetaxel with two pCRs (8%), and 51 received doxorubicin and cyclophosphamide with 11 pCRs (22%). To place this in the context of other available data, several retrospective studies in carriers of BRCA1 and BRCA2pathogenic variants typically treated with anthracycline-based chemotherapy have demonstrated clinical complete response rates of 46% to 90% after preoperative chemotherapy,[281,283] particularly in carriers of BRCA1 pathogenic variants.[284] A trial of preoperative cisplatin in triple-negative breast cancer patients demonstrated a pCR of 22%; however, both carriers of BRCA1 pathogenic variants in the study had a pCR.[286]
A small study reported a statistically significant higher sensitivity to first-line treatment in carriers of BRCA2 pathogenic variants with metastatic breast cancer than in those with sporadic metastatic cancer; conversely, no statistically significant differences were observed for BRCA1 carriers with metastatic breast cancer.[264] No data directly compare different types of chemotherapy in BRCA1 and carriers of BRCA2 pathogenic variants. However, in a small study of 20 carriers of BRCA1 pathogenic variants with metastatic breast cancer, there was an overall response rate of 80% to cisplatin therapy.[287] Further studies are evaluating the role of platinums in BRCA1- and BRCA2-associated metastatic cancer.
Thus, the preclinical and clinical data suggesting improved chemotherapy response rates in BRCA1-associated breast cancer are consistent with the emerging understanding of BRCA1 function in DNA-damage response and cell-cycle regulation. While these findings raise the possibility that germline status may influence treatment choices, there is insufficient evidence at this time to support treating carriers of pathogenic variants with different regimens in the adjuvant and neoadjuvant setting.
Another specific process to exploit in BRCA1/BRCA2-deficient tumors is the poly (ADP-ribose) polymerase (PARP) pathway. Whereas BRCA1 and BRCA2 are active in the repair of double-stranded DNA breaks by homologous recombination, PARP is involved in the repair of single-stranded breaks by base excision repair. It was hypothesized that inhibiting base excision repair in BRCA1- or BRCA2-deficient cells would lead to enhanced cell death as two separate repair mechanisms would be compromised—the concept of synthetic lethality. In vitro studies have shown that PARP inhibition kills BRCA variant cells with high specificity.[288,289]
In 2017, two phase III trials explored PARP inhibitors in patients with metastatic breast cancer and a BRCA pathogenic variant. In the OlympiAD trial, 302 patients were randomly assigned to receive olaparib 300 mg orally twice daily or the physician’s choice of chemotherapy (capecitabine, eribulin, or vinorelbine). Progression-free survival (PFS) was improved from a median of 4.2 months to 7.0 months (HR, 0.58; P < .001) in patients treated with olaparib. OS was a secondary endpoint and no statistically significant difference was identified.[290] The EMBRACA trial randomly assigned 431 patients to talazoparib 1 mg orally daily versus the physician’s choice of capecitabine, eribulin, vinorelbine, or gemcitabine.[291] Patients receiving talazoparib had improved PFS by a median of 8.6 months versus 5.6 months (HR, 0.54; < .001). OS was an alpha-protected endpoint for EMBRACA and, at the time of first report, the data were immature with only 51% of events reported (HR, 0.76; = .105). Given these results, PARP inhibitors are considered a standard option for patients with metastatic breast cancer and a BRCApathogenic variant.
Ongoing research is evaluating multiple new combinations with PARP inhibitors to include other DNA damage repair agents, immunotherapies, and targeted therapies, as well as their use in early-stage breast cancer. In addition, emerging studies are exploring the activity of other classes of drugs which target the DNA repair process. A phase II study demonstrated that treatment with lurbinectedin, a trabectedin analog, which selectively inhibits the active transcription of protein-coding genes and irreversibly stalls the elongation of RNA polymerase II on the DNA template degrading the ubiquitin/proteasome machinery, resulted in a significant improvement in PFS and a trend toward improvements in OS in patients with BRCA1/BRCA2-mutated metastatic breast cancer.[292]
(Refer to the Systemic therapy in ovarian cancer treatment section in the Ovarian cancersection of this summary for more information about treatment strategies for BRCA-associated ovarian cancer.)
Local therapy
Breast conservation therapy for carriers of BRCA1/BRCA2 pathogenic variants
While lumpectomy plus radiation therapy has become standard local-regional therapy for women with early-stage breast cancer, its use in women with a hereditary predisposition for breast cancer who do not choose immediate bilateral mastectomy is more complicated. Initial concerns about the potential for therapeutic radiation to induce tumors or cause excess toxicity in carriers of BRCA1/BRCA2 pathogenic variants were unfounded.[293-295] Despite this, an increased rate of second primary breast cancer exists, which could impact treatment decisions.
Because of the established increased risk of second primary breast cancers, which may be up to 60% in younger women with BRCA1 pathogenic variants,[259] some carriers of BRCA1/BRCA2 pathogenic variants choose bilateral mastectomy at the time of their initial cancer diagnosis. (Refer to the Contralateral breast cancer in carriers of BRCA pathogenic variants section of this summary for more information.) However, several studies support the use of breast conservation therapy as a reasonable option to treat the primary tumor.[296-298] The risk of ipsilateral recurrence at 10 years has been estimated to be between 10% to 15% and is similar to that seen in noncarriers.[99,259,296-298] Studies with longer periods of follow-up demonstrate risks of ipsilateral breast events at 15 years to be as high as 24%, largely resulting from ipsilateral second breast cancers (rather than relapse of the primary tumor).[296,298] Although not entirely consistent across studies, radiation therapy, chemotherapy, oophorectomy, and tamoxifen are associated with a decreased risk of ipsilateral events,[99,296-298] as is the case in sporadic breast cancer. The risk of contralateral breast cancer does not appear to differ in women undergoing breast conservation therapy versus unilateral mastectomy, suggesting no added risk of contralateral breast cancer from scattered radiation.[296] This finding is supported by a population-based case-control study of women diagnosed with breast cancer before the age of 55 years.[299] All women were genotyped for BRCA1/BRCA2. Although there was a significant fourfold risk of contralateral breast cancer in carriers compared with noncarriers, carriers who were exposed to radiation therapy for the first primary were not at increased risk of contralateral breast cancer compared with carriers who were not exposed. (Refer to the Mammography section for more information about radiation and breast cancer risk.) Finally, no difference in OS at 15 years has been seen between carriers of BRCA1/BRCA2 pathogenic variants choosing breast conservation therapy and carriers choosing mastectomy.[296]

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.[300-308] 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.[301] 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.[309] 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.[305] In a retrospective U.S. hospital-based study, AJ carriers of BRCApathogenic 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.[303] Similarly, a significant survival advantage was seen in a case-control study among women with non-AJ BRCA pathogenic variants.[310] 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.[311] A U.S. population-based study showed improvement in OS in BRCA2, but not in BRCA1, carriers.[312] However, the study included only 12 carriers of BRCA2 pathogenic variants and 20 carriers of BRCA1pathogenic variants. Significantly better OS and progression-free survival (PFS) were observed in 29 high-grade serous ovarian cancer cases with a known BRCA2 pathogenic 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.[313] 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).[314] 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.[304]
In contrast, several studies have not found improved OS among ovarian cancer patients with BRCA pathogenic variants.[255,315-317] The largest of these studies involved a large series of unselected Canadian and U.S. patients who were tested for BRCA1 and BRCA2pathogenic 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.[318] Furthermore, one study suggested that there was worse survival in ovarian cancer patients with a family history.[316]
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;[313,314] 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.[319,320] 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.[275] 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.[303,306]
PARP pathway inhibitors are currently being 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.
A phase I study of olaparib, an oral PARP inhibitor, demonstrated tolerability (with minimal side effects) and activity in carriers of BRCA1 and BRCA2 pathogenic variants with ovarian, breast, and prostate cancers.[321] 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.[322] 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. The most frequent side effects were mild nausea and fatigue. [323] 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 BRCA2pathogenic variants or with epigenetic silencing of the genes.[324]
Studies have used PARP inhibitors in ovarian cancer, as both treatment and maintenance, after platinum-based chemotherapy. 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.[325] 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.[326] 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 BRCApathogenic variants (HR, 0.21; 95% CI, 0.08–0.55). There were no differences in OS between the olaparib and control groups.[327]
In contrast, another study observed a survival advantage among BRCA wild-type patients. 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 months vs. 9 months) (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 months vs. 5.7 months) (HR, 0.32; P =.008) and a smaller trend toward increased PFS in 47 women with BRCA pathogenic variants (19.4 vs. 16.5 months) (HR, 0.55; P = 0.16).[328]
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.[329] 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.[330,331] 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%).[332] 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 256 patients, 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).[333] 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).[334] 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 BRCApathogenic 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.[335] More mature data are necessary to determine whether platinum sensitivity is a marker of response to PARP inhibitors in women with pathogenic BRCA variants, and the optimal timing of PARP inhibitors as treatment or as maintenance therapy.

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
OrganizationReferral RecommendationsRisk Assessment and Genetic Counseling RecommendationsGenetic Testing RecommendationsManagement 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) [336]AddressedRisk Assessment:AddressedNot addressedNot addressed
Genetic Counseling:Addressed
ACOG (2017) [337]AddressedRisk Assessment:AddressedAddressedAddressed
Genetic Counseling:Addressed
ASCO (2015) [338]Not addressedRisk Assessment:General recommendations; not specific to HBOCGeneral recommendations; not specific to HBOCNot addressed
Genetic Counseling:Addressed
ESMO (2016) [339]Refers to other published guidelinesRisk Assessment: Refers to other published guidelinesRefers to other published guidelinesAddressed
Genetic Counseling:Addressed
NAPBC (2014) [340]Refers to other published guidelinesRisk Assessment:Refers to other published guidelinesIndications for testing not addressed; components of pretest and posttest counseling addressedNot addressed
Genetic Counseling:Addressed
NSGC (2013) [341]AddressedRisk Assessment:Refers to other published guidelines and available modelsAddressedRefers to other published guidelines
Genetic Counseling:Addressed
NCCN (2019) [33]AddressedRisk Assessment:AddressedAddressedAddressed
Genetic Counseling:Addressed
SGO (2015, 2017) [337,342]AddressedRisk Assessment:AddressedAddressedAddressed
Genetic Counseling:Addressed
USPSTFa(2014) [343]AddressedRisk Assessment:AddressedAddressed in general terms and other guidelines referencedAddressed in general terms and other guidelines referenced
Genetic Counseling:Addressed
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Clinical Management of Other Hereditary Breast and/or Gynecologic Cancer Syndromes

Lynch Syndrome

As mismatch repair genes were identified as the genetic basis of Lynch syndrome, microsatellite instability was identified as a common molecular marker of mismatch repair deficiency. Approximately 15% of sporadic colorectal cancers show microsatellite instability, while up to 28% of sporadic endometrial cancers have this molecular change.[1,2] Most frequently, sporadic tumors with microsatellite instability have hypermethylation of the MLH1 promoter. In Lynch syndrome–related tumors showing microsatellite instability, there is typically loss of one or more of the proteins associated with the mismatch repair genes.
Certain histopathologic features are also strongly suggestive of a microsatellite instability phenotype, including the presence of tumor infiltrating lymphocytes, peritumoral lymphocytes, undifferentiated carcinomas, and lower uterine segment tumors. Use of clinical criteria is one strategy of selection criteria for tumor testing. Computer models have also been used to predict the probability of a mismatch repair genetic variant and can be used in the absence of microsatellite instability or immunohistochemistry information.[3-6] Overall, however, there is a move towards universal testing of colorectal and endometrial tumors when tumor tissue is available. (Refer to the Universal tumor testing to screen for Lynch syndrome section in the PDQ summary on Genetics of Colorectal Cancer for more information.)
References
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  2. Nakamura A, Osonoi T, Terauchi Y: Relationship between urinary sodium excretion and pioglitazone-induced edema. J Diabetes Investig 1 (5): 208-11, 2010. [PUBMED Abstract]
  3. Balmaña J, Stockwell DH, Steyerberg EW, et al.: Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 296 (12): 1469-78, 2006. [PUBMED Abstract]
  4. Barnetson RA, Tenesa A, Farrington SM, et al.: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354 (26): 2751-63, 2006. [PUBMED Abstract]
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  6. Khan O, Blanco A, Conrad P, et al.: Performance of Lynch syndrome predictive models in a multi-center US referral population. Am J Gastroenterol 106 (10): 1822-7; quiz 1828, 2011. [PUBMED Abstract]

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