“Healthy women who carry a breast cancer-causing mutation in the BRCA1 gene, not only reduce their risk of developing the disease but also their chances of dying from it if they have both breasts removed, according to new research presented today (Wednesday) at the 11th European Breast Cancer Conference.
“However, the study also found that for women with a mutation in the BRCA2 gene, there was no difference in their chances of dying from the disease whether they opted to have their breasts removed (bilateral risk-reducing mastectomy or BRRM) or chose to have closer surveillance instead.”
“The FDA authorized marketing the direct-to-consumer Personal Genome Service Genetic Health Risk Report for three mutations of BRCA1 and BRCA2 most common among people of Eastern European Ashkenazi Jewish descent, according to a press release.
“The test — marketed by 23andMe — analyzes DNA using self-collected saliva samples to determine whether a woman is at increased risk for breast and ovarian cancer and whether a man is at increased risk for breast or prostate cancer.”
“Women who have BRCA mutations do just as well after treatment for breast cancer as other patients, British researchers reported Thursday.
“It’s good news for people with BRCA1 and BRCA2 mutations that raise their risk of cancer. If they get cancer and have standard treatment, they live as long as breast cancer patients without the mutation.”
“Approximately 5% of patients with sporadic breast cancer harbor mutations in BRCA1 or BRCA2; genes that are involved in the DNA repair process. Several phase I/II clinical studies have shown activity of single agent poly(ADP-ribose) polymerase (PARP) inhibitors in patients with metastatic breast cancer (MBC) and BRCA1/2 mutations. Recently in the randomized phase III OlympiAD trial, the PARP inhibitor olaparib improved progression-free survival (PFS) by 2.8 months over standard chemotherapy in patients with human epidermal growth factor 2 (HER2)–negative MBC and germline BRCA mutations.”
“Researchers conducted an analysis that included nearly 10,000 women with the BRCA1 or BRCA2 genetic mutations to estimate the age-specific risk of breast or ovarian cancer for women with these mutations, according to a study published by JAMA.
“The optimal clinical management of women with BRCA1 and BRCA2 mutations depends on accurate age specific cancer risk estimates. These can be used to estimate the absolute risk reduction from preventive strategies and to inform decisions about the age at which to begin cancer screening. Antonis C. Antoniou, Ph.D., of the University of Cambridge, England, and colleagues included 6,036 BRCA1 and 3,820 BRCA2 female carriers (5,046 unaffected and 4,810 with breast or ovarian cancer or both at study entry) in the analysis.”
“Clinical data on the role of platinum salts in the treatment of triple-negative breast cancer (TNBC) — particularly germline (g) BRCA1-related TNBC — are encouraging in the neoadjuvant setting, where the pathologic complete response rate is improved with the addition of a platinum to anthracycline and taxane-based chemotherapy.
“Data have emerged to show the utility of incorporating platinums into the metastatic setting in TNBC as well, with the strongest evidence for use in patients who are BRCA1/2 mutation carriers or who express a BRCA-like genomic instability signature.”
“TNFSF11, also known as RANKL, shows potential as a genetic pathway in the prevention of breast cancer for women carrying BRCA1 mutations. Early study findings, published in Nature Medicine, show that a drug currently used in the treatment of osteoporosis, denosumab (Xgeva)—an inhibitor of RANKL—could also be used for the prevention and delay of tumor growth for BRCA1-mutation carriers.
“ ‘These findings imply an integral role for the RANK pathway in tumor initiation in BRCA1-mutation carriers and lend support to clinical studies for the “repurposing” of denosumab as a novel preventative therapy strategy in these and possibly other “high-risk” women,’ wrote study authors.”
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“A new clinic in San Francisco is opening with an unusual mission: to provide care for people affected by mutations in two particular genes linked to a high risk of cancer. The move highlights the ways growing knowledge about the genetics of the disease is reshaping care for patients.
“The clinic, at University of California, San Francisco, will treat patients with abnormalities in the genes known as BRCA1 and BRCA2. The mutations are widely recognized as inheritable causes of breast and ovarian cancers.”
“The vast majority of young women with breast cancer are being tested for mutations in the cancer-susceptibility genes BRCA1 and BRCA2, a new study led by Dana-Farber Cancer Institute investigators suggests, and many of them are using the results of those tests to guide their treatment.
“The study, published in the Journal of the American Medical Association Oncology, provides encouraging evidence that patients are largely following National Comprehensive Cancer Network guidelines that women diagnosed with breast cancer at age 50 or younger undergo genetic testing. At the same time, however, the researchers found that many patients who don’t carry BRCA1 or 2 mutations are choosing to have both breasts removed, even though their risk of cancer in the unaffected breast is no higher than average.”