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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Lasheras, Sandra Viz; Pujol, Roser; Kiiski, Johanna; Muranen, Taru A.; Barnes, Daniel R.; Dennis, Joe; Blackburn, Anneke; Dahlstrom, Jane

Description

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931*...[Show more]

CollectionsANU Research Publications
Date published: 2019-11-01
Type: Journal article
URI: http://hdl.handle.net/1885/206422
Source: Breast Cancer
DOI: 10.1038/s41523-019-0127-5
Access Rights: Open Access

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