Article
Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
Breast (Edinburgh, Scotland) - 1 Oct 2022
Graffeo R, Rana H Q, Conforti F, Bonanni B, Cardoso M J, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge A H, Lambertini M, Garber J E
Abstract excerpt
Breast cancer risk associated with germline likely pathogenic/pathogenic variants (PV) varies by gene, often by penetrance (high >50% or moderate 20-50%), and specific locus. Germline PVs in BRCA1 and BRCA2 play important roles in the development of breast and ovarian cancer in particular, as well as in other cancers such as pancreatic and prostate cancers and melanoma. Recent studies suggest that other cancer...
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