Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

The authors performed specific sequencing 17 known and putative breast cancer susceptibility genes in 660 women with familial breast cancer who did not carry a mutation the known susceptibility genes, BRCA1 or BRCA2. The authors then evaluated the putative cancer-related mutations and found in relevant family members to determine whether they were carried by affected family members. Only variants in the CDH1, CHEK2, PALB2 and TP53 genes showed evidence of a significantly increased risk of breast cancer, with some supportive evidence that mutations in ATM confer moderate risk. The authors found that panel testing for these breast cancer families provided additional relevant clinical information for <2% of families. (By Dr. Georgia Chenevix-Trench, )

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