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

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 o...

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Detalles Bibliográficos
Autores: Osorio, Ana|||0000-0001-8124-3984, Bogliolo, Massimo|||0000-0001-8240-7784, Fernández, Victoria, Barroso, Alicia, De la Hoya, Miguel|||0000-0002-8113-1410, Caldes, Trinidad, Lasa, Adriana|||0000-0001-9957-9646, Ramon y Cajal, Teresa|||0000-0003-3490-3585, Santamariña, Marta, Vega, Ana|||0000-0002-7416-5137, Quiles, Francisco, Lázaro García, Conxi|||0000-0002-7198-5906, Diez, Orland|||0000-0001-7339-0570, Fernández García, Daniel, González-Sarmiento, Rogelio|||0000-0002-2726-6795, Durán, Mercedes|||0000-0002-6301-9732, Fernández Piqueras, José, Marín, Maria, Pujol Calvet, Maria Roser|||0000-0003-1840-5455, Surralles, Jordi|||0000-0002-4041-7519, Benitez, Javier|||0000-0002-0923-7202
Tipo de recurso: artículo
Fecha de publicación:2013
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:132519
Acceso en línea:https://ddd.uab.cat/record/132519
https://dx.doi.org/urn:doi:10.1002/humu.22438
Access Level:acceso abierto
Palabra clave:Fanconi anemia
Breast cancer
ERCC4
FANCQ
XPF
Descripción
Sumario: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 negative for BRCA1 and BRCA2 mutations and 854 controls. The frequency of ERCC4 mutation carriers does not differ between cases and controls, suggesting that ERCC4 is not a cancer susceptibility gene. Interestingly, the prevalence of ERCC4 mutation carriers (one in 288) is similar to that reported for FANCA, whereas there are approximately 100-fold more FA-A than FA-Q patients, indicating that most biallelic combinations of ERCC4 mutations are embryo lethal. Finally, we identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair.

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