Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

doi:10.1002/humu.22438

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Article

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

Human mutation - 1 Dec 2013

Osorio Ana, Bogliolo Massimo, Fernández Victoria, Barroso Alicia, de la Hoya Miguel, Caldés Trinidad, Lasa Adriana, Ramón y Cajal Teresa, Santamariña Marta, Vega Ana, Quiles Francisco, Lázaro Conxi, Díez Orland, Fernández Daniel, González-Sarmiento Rogelio, Durán Mercedes, Piqueras José Fernández, Marín Maria, Pujol Roser, Surrallés Jordi, Benítez Javier

Abstract excerpt

Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested...

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Identifiers

PMID: 24027083
DOI: 10.1002/humu.22438

Genes

ERCC4
BRCA1
BRCA2
FANCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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