Rare Genetic Mutations Tied to Higher Risk of Breast Cancer

Rare Genetic Mutations Tied to Higher Risk of Breast Cancer
Certain rare genetic mutations, similar to the more common BRCA1 and BRCA2 mutations, are also associated with an increased risk of breast cancer, according to a large global study led by researchers at the University of Melbourne and Cancer Council Victoria. The study, "PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS," published in the Journal of Medical Genetics, may improve counseling and clinical guidelines for carriers of these mutations, with the possible recommendation of preventive treatments, such as prophylactic mastectomy. The genes whose mutations were identified in this study, PALB2, ATM, and CHECK, were already considered breast cancer susceptibility genes, and included in the genetic screening tests. But because these mutations are extremely rare, there were no accurate estimates of the breast cancer risk associated with such mutations. "Our previous studies highlighted these as genes of interest, and this has led to women being screened for changes to these genes, but we haven't had enough information to inform advice," Professor Melissa Southey, of the University's Centre for Cancer Research at the Victorian Comprehensive Cancer Centre (VCCC), said in a press release. "It's only by screening the DNA of tens of thousands of people in different countries that we have gained a clearer picture of their significance in causing cancers." Southey and Associate Professor Roger Milne led an internationa
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