viernes, 19 de abril de 2019

Genetics of Breast and Gynecologic Cancers (PDQ®) 2/10 —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




Considerations When Conducting Genetic Testing

Indications for genetic testing

Several professional organizations and expert panels— including the American Society of Clinical Oncology,[148] the National Comprehensive Cancer Network,[149] the American Society of Human Genetics,[150] the American College of Medical Genetics and Genomics,[151] the National Society of Genetic Counselors,[151] the U.S. Preventive Services Task Force,[152] and the Society of Gynecologic Oncologists —[153] have developed clinical criteria and practice guidelines that can be helpful to health care providers in identifying individuals who may have a BRCA1 or BRCA2 pathogenic variant.

Benefits of offering genetic testing at the time of cancer diagnosis

At the time of a new cancer diagnosis, genetic testing for inherited cancer predisposition may guide patient care including decisions about surgery, chemotherapy and other biologics, and radiation treatment.[154] Among high-risk patients, the option of genetic testing is an important part of the shared decision-making process regarding cancer treatments at the time of diagnosis.
Breast cancer diagnosis
Benefits of offering genetic testing at the time of breast cancer diagnosis include the following:
  1. Surgery: The identification of inherited susceptibility to breast cancer may influence surgical treatment decisions. As an example, the high risk of a second primary breast cancer among BRCA pathogenic variant carriers, particularly those diagnosed at an early age, may influence their decision to choose a bilateral mastectomy (versus a lumpectomy or unilateral/subtotal mastectomy) for surgical treatment of their breast cancer.[155] (Refer to the Contralateral breast cancer in carriers of BRCA pathogenic variants section of this summary for more information about the risk of a second primary breast cancer.) Discussion of risk-reducing salpingo-oophorectomy is indicated,[156] and referral to a gynecologic provider may be considered.
  2. Chemotherapy and other biologics: Medical treatments may be guided by the identification of a pathogenic variant in an inherited cancer predisposing gene. As an example, among BRCA pathogenic variant carriers, breast cancer treatment may include the use of platinum-based agents.[157] Furthermore, novel agents such as poly (ADP-ribose) polymerase (PARP) inhibitors may be used in the treatment of metastatic breast cancer.[158]
  3. Radiation therapy: Decisions about the use of radiation treatment may be guided by the presence of a pathogenic variant in an inherited breast cancer susceptibility gene. In particular, the poorer wound healing in irradiated breasts is an important consideration for those who may consider risk-reducing mastectomy with reconstruction. As an example, individuals with a pathogenic variant in TP53 may experience higher risks from radiation, including increased risks for subsequent new cancers.[159,160] Thus, identification of TP53 carriers in the context of an active breast cancer diagnosis may influence radiation treatment decisions and reconstruction options.
Ovarian cancer diagnosis
Benefits of offering genetic testing at the time of ovarian cancer diagnosis include the following:
  1. Surgery: In most cases, the decision for ovarian cancer surgery is made on the basis of an adnexal mass or abdominal symptoms. When possible, considering the likelihood of a heritable genetic variant at the time of diagnosis may add value to surgical decision-making. The identification of inherited susceptibility to ovarian/fallopian tube cancer may influence surgical treatment decisions. For a questionable adnexal mass in a younger woman who is at risk of carrying a pathogenic variant of a highly penetrant ovarian cancer gene, knowledge of this information may help guide a decision for risk-reducing or therapeutic surgery.[161,162] For women who may be considering fertility preservation surgery, genetic knowledge may motivate consideration of bilateral salpingo-oophorectomy, and in the case of carriers of BRCA1 pathogenic variants, a more detailed discussion regarding aggressive uterine cancer risk.
  2. Chemotherapy and other biologics: First-line chemotherapy for ovarian cancer still relies on a backbone of platinum and taxane chemotherapy. Current treatment options for optimally resected stage III ovarian carcinoma include intravenous (IV) chemotherapy, dose-dense IV chemotherapy, and a combination of IV paclitaxel plus intraperitoneal (IP) cisplatin, followed by IP paclitaxel 1 week later. Carriers of BRCA1and BRCA2 pathogenic variants are considered more platinum sensitive, with longer progression-free survival times compared with BRCA1 and BRCA2 wild-type patients,[163,164] so it is unclear whether a particular treatment strategy is driven more by antiangiogenesis effects, peritoneal dose intensity, or platinum dose intensity. The advent of PARP as a biologic target (in combination with chemotherapy or as maintenance) may also increase the armory of first-line treatment of ovarian cancer, pending the results of clinical trials that have completed accrual. (Refer to the Systemic therapy in ovarian cancer treatment section in the Ovarian cancer section of this summary for more information about PARP inhibitors in ovarian cancer treatment.)
Endometrial cancer diagnosis
Benefits of offering genetic testing at the time of endometrial cancer diagnosis include the following:
  1. Surgery: The most common treatment for a newly diagnosed endometrial cancer includes hysterectomy with removal of the ovaries and fallopian tubes, as well as assessment of lymph nodes.[165] An exception to this practice might apply to a younger woman who wishes to retain fertility or retain her adnexa. Immunohistochemistry of endometrial sampling may allow for an assessment of the likelihood of a heritable genetic variant at the time of diagnosis, which may add value to the surgical decision-making process. For a young woman who is found to have Lynch syndrome, knowledge of this information may help guide a decision for hormonal management of endometrial cancer to allow future childbearing, or salpingo-oophorectomy if her risk of ovarian cancer is deemed high enough on the basis of a specific genetic variant. For a young woman who is found to carry a pathogenic variant in BRCA1/BRCA2, or one of the other homologous recombination deficiencies increasing ovarian cancer risk, she may wish to decide between salpingo-oophorectomy or, at least, salpingectomy.
  2. Chemotherapy and other biologics: Immune checkpoint inhibitors are now approved for use in endometrial cancers that have MSI or MMR deficiency.[166] While MSI and MMR status can be assessed at either the time of diagnosis or recurrent disease, it may be beneficial to perform tumor testing at diagnosis with the primary pathology processing, usually at the time of hysterectomy.

Multigene (panel) testing

Since the availability of next-generation sequencing and the Supreme Court of the United States ruling that human genes cannot be patented, several clinical laboratories now offer genetic testing through multigene panels at a cost comparable to that of single-gene testing. Even testing for BRCA1 and BRCA2 is a limited panel test of two genes. Approximately 25% of all ovarian/fallopian tube/peritoneal cancers are caused by a heritable genetic condition. Of these, about one-quarter (6% of all ovarian/fallopian tube/peritoneal cancers) are caused by genes other than BRCA1 and BRCA2, including many genes associated with the Fanconi anemia pathway or otherwise involved with homologous recombination.[167] In a population of ovarian cancer patients who test negative for BRCA1 and BRCA2 pathogenic variants, multigene panel testing can reveal actionable pathogenic variants.[168-170]
In an unselected population of breast cancer patients, the prevalence of BRCA1 and BRCA2pathogenic variants was 6.1%, while the prevalence of pathogenic variants in other breast/ovarian cancer–predisposing genes was 4.6%.[171] In an unselected population of endometrial cancer patients, the prevalence of Lynch syndrome pathogenic variants (MLH1, MSH2, EPCAM-MSH2, MSH6, and PMS2) was 5.8%; the prevalence of pathogenic variants in other actionable genes was 3.4%.[91] Similarly, in a study of 35,409 women with breast cancer tested with the Myriad 25-gene panel, a pathogenic variant was found in 9.3% of women.[172] Among that 9.3%, 48.5% of the women carried a pathogenic variant in BRCA1 or BRCA2. The majority of other breast cancer genes with pathogenic variants identified included CHEK2 (11.7%), ATM (9.7%), and PALB2 (9.3%). The prevalence of pathogenic variants in the other breast cancer genes on the panel ranged from 0.05% to 0.31%. Pathogenic variants in Lynch syndrome genes accounted for 7.0% of variants identified; 3.7% were found in other genes included in the panel. The rate of pathogenic variants was higher in women with triple-negative breast cancer diagnosed before age 40 years. A similar trend of identifying pathogenic variants in non-BRCA susceptibility genes in male breast cancer patients has also been described.[173] In two studies of women who had previously tested negative for BRCA1/BRCA2, reflex testing with a multigene panel identified pathogenic variants in additional genes among 8% to 11% of cases.[174,175]
There are caveats of multigene testing. Genes identified as part of multigene panel testing can be associated with varied breast cancer risk or confer no known risk.[170] There is also the possibility of finding a variant of uncertain significance. Even within a given gene, there may be differential risks on the basis of specific pathogenic variants.[176] Many centers now offer a multigene panel test instead of just BRCA1 and BRCA2 testing if there is a concerning family history of syndromes other than hereditary breast and ovarian cancer, or more importantly, to gain as much genetic information as possible with one test, particularly if there may be insurance limitations.
(Refer to the Multigene [panel] testing section in the PDQ summary on Cancer Genetics Risk Assessment and Counseling for more information about multigene testing, including genetic education and counseling considerations and research examining the use of multigene testing.)

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