Type and Location of BRCA Mutations Influences Breast and Ovarian Cancer Risk

Type and Location of BRCA Mutations Influences Breast and Ovarian Cancer Risk
shutterstock_181681331A new study recently published in the journal JAMA and led by researchers at the Perelman School of Medicine at the University of Pennsylvania, revealed that specific mutations in the BRCA1 and BRCA2 genes result in different risks for breast and ovarian cancer development. The study is entitled “Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.” BRCA1 and BRCA2 genes are known to produce tumor suppressor proteins that help repair damaged DNA. When one or both of these genes suffer a mutation, their function might be compromised, potentially resulting in a defective DNA repair mechanism and increased risk for genetic alterations that may lead to cancer. It is well-known that women who inherit specific mutations in the BRCA1 or BRCA2 genes have an increased risk for developing breast and/or ovarian cancer. However, the cancer risk associated to specific mutations in either BRCA1or BRCA2 is poorly elucidated. In this study, researchers assessed whether there is a link between BRCA1 and BRCA2 mutation type or mutation location and variation in ovarian and breast cancer risk. Researchers analyzed 31,481 women from 33 different countries who had dise
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