Mutations in Gene Are Associated with Predisposition to Breast Cancer

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In this study, we aimed to find novel breast cancer susceptibility genes by whole-exome sequencing in nine early-onset familial breast cancer patients without BRCA1/2 mutations. We found that two index cases carried a potentially deleterious mutation in the RECQL gene (RecQ helicase-like). We further screened the RECQL gene in an additional 439 unrelated familial breast cancer patients. In total, we found nine index cases carried a pathogenic mutation in the RECQL gene among the 448 BRCA-negative familial breast cancer patients. The RECQL is one of five RecQ helicase proteins (named RECQL, BLM, WRN, RECQL4 and RECQL5). RECQL is considered to be genome caretaker, and mutations in three of five RecQ genes, BLM, WRN and RECQ4 are associated with cancer predisposition and/or premature aging. Here, we are the first to report that mutations in the RECQL gene are associated with predisposition to breast cancer and this finding may have potential clinical implications and raise research questions about RECQL.

Vyšlo v časopise: Mutations in Gene Are Associated with Predisposition to Breast Cancer. PLoS Genet 11(5): e32767. doi:10.1371/journal.pgen.1005228
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005228

Souhrn

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