Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas)
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Fernández, Victoria (Centro Nacional de Investigaciones Oncológicas)
Barroso, Alicia (Centro Nacional de Investigaciones Oncológicas)
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau)
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau)
Santamariña, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Quiles, Francisco (Institut Català d'Oncologia)
Lazaro Garcia, Conxi (Institut Català d'Oncologia)
Diez, Orland (Vall d'Hebron Institut d'Oncologia)
Fernández García, Daniel (Instituto de Biología Molecular y Celular del Cancer)
González-Sarmiento, Rogelio (Instituto de Biología Molecular y Celular del Cancer)
Durán, Mercedes (Universidad de Valladolid. Instituto de Biología y Genética Molecular)
Fernández Piqueras, José (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Universitat Autònoma de Barcelona

Date:	2013
Abstract:	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.
Rights:	Tots els drets reservats.
Language:	Anglès
Document:	Article ; recerca ; Versió acceptada per publicar
Subject:	Fanconi anemia ; Breast cancer ; ERCC4 ; FANCQ ; XPF
Published in:	Human mutation, Vol. 34, issue 12 (Dec. 2013) , p.1615-8, ISSN 1098-1004

DOI: 10.1002/humu.22438

Post-print 13 p, 1.5 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles