The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SViz, Pujol R, , Muranen TA, Barnes DR, Dennis J et al. |
| Journal | NPJ BREAST CANCER |
| Volume | 5 |
| Pagination | 38 |
| Date Published | NOV 1 |
| Type of Article | Article |
| Résumé | {Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, 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 pArg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM(-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44 |
| DOI | 10.1038/s41523-019-0127-5 |