Skip navigation
Skip navigation

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


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
Source: Breast Cancer
DOI: 10.1038/s41523-019-0127-5
Access Rights: Open Access


File Description SizeFormat Image
01_Figlioli_The_FANCM%3Ap.Arg658*_truncating_2019.pdf1.94 MBAdobe PDFThumbnail

This item is licensed under a Creative Commons License Creative Commons

Updated:  17 November 2022/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator