Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1615-1618

  Osorio, Ana ^a,b   Bogliolo, Massimo ^a,b,c   Fernández, Victoria ^a   Barroso, Alicia ^a   de la Hoya, Miguel ^d   Caldés, Trinidad ^d   Lasa, Adriana ^e   Ramón y Cajal, Teresa ^e   Santamariña, Marta ^b,f   Vega, Ana ^b,g   Quiles, Francisco ^h   Lázaro, Conxi ^h   Díez, Orland ^c   Fernández, Daniel ⁱ   González Sarmiento, Rogelio ⁱ   Durán, Mercedes ^j   Piqueras, José Fernández ^b,k   Marín, Maria ^c   Pujol, Roser ^b,c   Surrallés, Jordi ^b,c   Benítez, Javier ^a,b   more..

^a Structural Biology and Biocomputing Programme   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^g Fundación Pública Galega de Medicina Xenómica SERGAS Santiago de Compostela   (Spain)

^h HOSPITAL DURAN I REYNALS   (Spain)

ⁱ UNIVERSITY OF SALAMANCA   (Spain)

^j UNIVERSITY OF VALLADOLID   (Spain)

^k CSIC   (Spain)

more..

Author keywords

Breast cancer; ERCC4; Fanconi anemia; FANCQ; XPF

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ERCC4 PROTEIN; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CHROMOSOME FRAGILITY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; FRAMESHIFT MUTATION; G2 PHASE CELL CYCLE CHECKPOINT; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INTERNAL RIBOSOME ENTRY SITE; INTRON; M PHASE CELL CYCLE CHECKPOINT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; OVARY CANCER; PEDIGREE; PRIORITY JOURNAL; PROTEIN STABILITY;

BREAST CANCER; ERCC4; FANCONI ANEMIA; FANCQ; XPF;

ALLELES; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA-BINDING PROTEINS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HUMANS; MUTATION; OVARIAN NEOPLASMS; PHENOTYPE; SPAIN;

EID: 84887610670     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22438     Document Type: Article

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