title: Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Seguí
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Matilde
authors.initials: M
authors.lastname: Navarro
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Pineda
authors.affiliation: Biomedical Research Laboratory, Medizinische Klinik 1, Universitätsklinikum Frankfurt, Frankfurt, Germany.
authors.forename: Nicole
authors.initials: N
authors.lastname: Köger
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Bellido
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Sara
authors.initials: S
authors.lastname: González
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Campos
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Iglesias
authors.affiliation: Department of Biochemistry and Molecular Biology, Instituto Universitario de Oncología, Universidad de Oviedo, Oviedo, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Valdés-Mas
authors.affiliation: Unit of Biomarkers and Susceptibility, Catalan Institute of Oncology, IDIBELL and CIBERESP, Hospitalet de Llobregat, Spain.
authors.forename: Adriana
authors.initials: A
authors.lastname: López-Doriga
authors.affiliation: Centro Nacional de Análisis Genómico, Fundació Parc Científic de Barcelona, Barcelona, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Gut
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Blanco
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Conxi
authors.initials: C
authors.lastname: Lázaro
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Capellá
authors.affiliation: Department of Biochemistry and Molecular Biology, Instituto Universitario de Oncología, Universidad de Oviedo, Oviedo, Spain.
authors.forename: Xose S
authors.initials: XS
authors.lastname: Puente
authors.affiliation: Biomedical Research Laboratory, Medizinische Klinik 1, Universitätsklinikum Frankfurt, Frankfurt, Germany.
authors.forename: Guido
authors.initials: G
authors.lastname: Plotz
authors.affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.
authors.forename: Laura
authors.identifier: http://orcid.org/0000-0003-0371-0844
authors.initials: L
authors.lastname: Valle
mesh_terms: D003106:Colon / Q000473:pathology*; D015179:Colorectal Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans
keywords: Cancer Susceptibility; Cancer Syndromes; Familial Adenomatous POlyposis; Family Cancer; Genetic Testing