Article
Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
American journal of human genetics - 6 Oct 2022
Li Shuai, MacInnis Robert J, Lee Andrew, Nguyen-Dumont Tu, Dorling Leila, Carvalho Sara, Dite Gillian S, Shah Mitul, Luccarini Craig, Wang Qin, Milne Roger L, Jenkins Mark A, Giles Graham G, Dunning Alison M, Pharoah Paul D P, Southey Melissa C, Easton Douglas F, Hopper John L, Antoniou Antonis C
Abstract excerpt
Rare pathogenic variants in known breast cancer-susceptibility genes and known common susceptibility variants do not fully explain the familial aggregation of breast cancer. To investigate plausible genetic models for the residual familial aggregation, we studied 17,425 families ascertained through population-based probands, 86% of whom were screened for pathogenic variants in BRCA1, BRCA2, PALB2, CHEK2, ATM, and...
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