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Abstract The objective of the study was to evaluate the prevalence of pathogenic variants in 18 cancer predisposition genes in a national cohort of women with breast cancer diagnosed at age 40 or younger. Women with breast cancer at age ≤40 years were recruited from 33 Canadian centres at diagnosis. Germline genetic testing was performed for 18 genes (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, STK11, RAD51D, RAD51C, EPCAM, MLH1, MSH2, MSH6, and PMS2).
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