Collaborator: St Thomas Hospital
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Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing
Abstract Objective We explored the germline mutation spectrum and prevalence among 1650 women with breast and uterine cancer (BUC) who underwent multi-gene hereditary cancer panel testing at a single commercial laboratory. Methods The combined frequency of mutations in 23 BC and/or UC genes was compared between BUC cases and control groups with (1) no personal cancer history; (2) BC only; and…
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Women with breast and uterine cancer are at increased risk for hereditary cancer predisposition
15% of BUC cases tested via MGPT were found to carry pathogenic mutations/VLPs which was significantly higher than women with either breast cancer alone (9.6%) or uterine cancer alone (11.9%). MSH6, CHEK2, BRCA1, BRCA2, ATM, PMS2, PALB2 and MSH2- all genes with published management guidelines- were most frequently mutated among BUC cases.