Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version
Changes to This Summary (01/11/2019)
The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added text to state that a study in women with unilateral versus contralateral breast cancer (CBC) evaluated breast cancer risk among family members (cited Reiner et al. as reference 11). Results indicated that among women with affected first-degree relatives, CBC risk was 8.1% at 10 years. This risk was higher among relatives diagnosed before age 40 years or with CBC, and approached the lower risk estimates among BRCA carriers. These risk estimates remained unchanged when the analysis was restricted to women who tested negative for a deleterious variant in BRCA1/BRCA2, ATM, CHEK2, and PALB2.
Updated National Comprehensive Cancer Network (NCCN) as reference 149.
Added Endometrial cancer diagnosis as a new subsection.
Added Couch et al. as reference 170.
Added text to state that a trend of identifying pathogenic variants in non-BRCA susceptibility genes in male breast cancer patients has been described (cited Pritzlaff et al. as reference 173). Also added text to state that 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 (cited Yadav et al. and Crawford et al. as references 174 and 175, respectively).
Added text to state that genes identified as part of multigene panel testing can be associated with varied breast cancer risk or confer no known risk. 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 (cited Southey et al. as reference 176).
Updated NCCN as reference 95.
Added text to state that mathematical modeling suggests that for women with BRCA-associated ovarian cancer, breast cancer screening should consist of mammography and clinical breast exam. The consideration of breast magnetic resonance imaging (MRI) and/or risk-reducing mastectomies may be beneficial for women with early-stage ovarian cancer or for long-term ovarian cancer survivors (cited McGee et al. as reference 163).
Added text to state that in a series of male breast cancer patients, the CHEK2 1100delC variant was significantly more frequently identified than in controls, suggesting that this variant is also associated with an increased risk of male breast cancer (cited Hallamies et al. as reference 28).
Revised text to state that the NCCN currently recommends annual breast MRI screening with contrast for BRCA1/BRCA2 carriers between ages 25 and 29 years and annual mammogram for BRCA1/BRCA2 carriers between ages 30 and 75 years (cited NCCN as reference 33).
The Multiplex biomarker assays for ovarian cancer screening subsection was renamed from Multiplex assays.
The Systemic therapy in breast cancer treatment subsection was renamed from Systemic therapy.
Added text to state that in 2017, two phase III trials explored poly (ADP-ribose) polymerase (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. Progression-free survival (PFS) was improved from a median of 4.2 months to 7.0 months in patients treated with olaparib (cited Robson et al. as reference 289). The EMBRACA trial randomly assigned 431 patients to talazoparib 1 mg orally daily versus the physician’s choice of chemotherapy (cited Litton et al. as reference 290). Patients receiving talazoparib had improved PFS by a median of 8.6 months versus 5.6 months. Given these results, PARP inhibitors are considered a standard option for patients with metastatic breast cancer and a BRCA pathogenic variant.
Added text to state that 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 resulted in a significant improvement in PFS and a trend toward improvements in overall survival in patients with BRCA1/BRCA2-mutated metastatic breast cancer (cited Cruz et al. as reference 291).
The Systemic therapy in ovarian cancer treatment subsection was renamed from Systemic therapy.
Added text to state that a study of breast or ovarian cancer survivors eligible for BRCA1/BRCA2 genetic testing found that 48% were referred for genetic counseling and testing and/or had undergone genetic testing. Individuals with higher breast cancer genetics knowledge and higher self-efficacy were more likely to have engaged in genetic counseling and testing (cited Hurtado-de-Mendoza et al. as reference 41).
Revised text to state that studies have documented that female BRCA1/BRCA2 carriers are more likely to disclose their status to other family members than are male carriers (cited Elrick et al. as reference 139).
Revised text to state that studies have investigated the process and content of communication among sisters about BRCA1/BRCA2 test results (cited Baars et al. as reference 142). Study results suggest that both carriers of pathogenic variants and women with uninformative results communicate with sisters to provide them with genetic risk information. Similar findings were reported in women with uninformative results disclosing test results to their daughters. Among relatives with whom genetic test results were not discussed, the most important reason given was that the affected women were not close to their relatives or had a poor relationship with them. Additionally, one study found that lower genetic worry, higher interest in genomic information, carrying a BRCA1or BRCA2 pathogenic variant, or having never been married was associated with communication to more family members. In contrast, a longer time interval since diagnosis was associated with communication to fewer family members.
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
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