Gene Mutations in Breast and Ovarian Cancer Promote Resistance to Therapy, Studies Say

Gene Mutations in Breast and Ovarian Cancer Promote Resistance to Therapy, Studies Say
Two new studies published in the Journal of Clinical Investigation revealed the mechanisms by which certain BRCA1 mutations make breast and ovarian cancers resistant to treatments. These new findings may help predict which patients will respond effectively to cancer therapies. Researchers estimate 5 to 10 percent of all breast cancer cases are hereditary, and the many of those (30-80%) are caused by mutations in the breast cancer 1 or breast cancer 2 (BRCA1 or BRCA2) gene. In fact, inherited mutations in the BRCA1 gene predispose women to hereditary breast and ovarian cancer, with an 80-90% lifetime risk of developing breast cancer and a 40-50% risk of developing ovarian cancer. In the study “BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1,Netherlands Cancer Institute researchers found that mice carrying a specific form of the cancer-associated human BRCA1 mutation, BRCA1184delAG, produced a defective protein that missed a key structural component called a RING domain which in turn enhanced tumors' resistance to targeted therapies. In another study titled “RING domain–deficient BRCA1 promotes PARP inhibitor and platinum resistance,” Fox Chase Cancer Center researchers investigated the same specific BRCA1 mutation and focused on these cells' treatment resistance. RING-deficient BRCA1 proteins contributed to the lack of sensitivity to treatments such as platinum and poly (ADP-ribose) pol
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