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Large studies estimate breast cancer risk linked to specific genes

Two large studies published in The New England Journal of Medicine found pathogenic variants in BRCA1 or BRCA2 genes raise the carrier's risk for breast cancer by nearly eightfold or more than fivefold, respectively, and protein-truncating variants in BRCA1 was linked to a tenfold higher risk. Moderate breast cancer risk was also associated with mutations in PALB2, ARD1, RAD51C, RAD51D, ATM and CHEK2 genes, and specific genes were linked to risks for specific types of breast cancer.

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