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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

Gynecologic Oncology Jan 10, 2019

Fulk K, et al. - Researchers explored the spectrum and prevalence of germline mutations among 1,650 women with breast and uterine cancer (BUC) who underwent multi-gene hereditary cancer panel testing at a single commercial laboratory. Findings revealed more frequent germline mutations among women with breast and uterine cancer vs women with either cancer alone, possibly justifying extended genetic testing for these women. Analysis of gene-specific mutation frequencies revealed the most frequent mutation of MSH6, CHEK2, BRCA1, BRCA2, ATM, PMS2, PALB2 and MSH2 among BUC cases. BUC cases showed BRCA1, MLH1, MSH2, MSH6, PMS2 and PTEN mutations more frequently compared to BC only cases; however, BUC cases showed only ATM mutations more frequently when compared to UC only cases. Most of the identified mutations in women with BUC were noted to have accompanying published management guidelines and significant implications for clinical care.

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