Publication Date:
2020-10-26
Description:
Background Few studies have examined gene-specific associations with contralateral and/or second breast cancer (SBC). Methods The frequency of pathogenic/likely pathogenic (P/LP) variants in clinically-actionable genes (BRCA1, BRCA2, PTEN, TP53, CHEK2, CDH1, ATM, PALB2, NBN, and NF1) was compared between women with a primary breast cancer (PBC) and SBC who underwent multi-gene panel testing at a single diagnostic testing laboratory. Race/ethnicity-specific logistic regression burden tests adjusted for age at diagnosis of first breast cancer, histology, presence of first- or second-degree relatives with breast cancer, and prior testing for BRCA1/2 genes, were used to test for associations with SBC. All statistical tests were two-sided. Results The study was comprised of 75,550 women with PBC and 7,728 with SBC. Median time between breast cancers for SBC was 11 (IQR=6,17) years. Restricting to women tested for all actionable genes (n = 60,310), there were 4,231 (7.8%) carriers of P/LP variants in actionable genes among the controls (PBC) compared to 652 (11.1%) women with SBC (p〈 .001). Among Caucasians, exclusive of Ashkenazi Jewish women, those carrying a P/LP variant in a clinically actionable gene were 1.44 (95% CI: 1.30-1.60) times as likely to have SBC than non-carriers, after accounting for potential confounders. Among African American and Hispanic women, a P/LP variant in a clinically actionable gene was 1.88 (1.36-2.56) and 1.66 (1.02-2.58) times as likely to be associated with SBC respectively (p
Electronic ISSN:
2515-5091
Topics:
Chemistry and Pharmacology
,
Medicine
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