APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas

Clinical Genetics

Volumn 76, Issue 3, 2009, Pages 242-255

  Filipe, B ^a   Baltazar, C ^a   Albuquerque, C ^a   Fragoso, S ^a   Lage, P ^b,c   Vitoriano, I ^a   de Ferro, S Mão ^b,c   Claro, I ^b,c   Rodrigues, P ^b,c   Fidalgo, P ^b   Chaves, P ^d   Cravo, M ^b   Nobre Leitao C ^b  

^a Centro de Investigação de Patobiologia Molecular CIPM   (Portugal)

^b Centro Hospitalar do Alto Ave   (Portugal)

^c Clínica de Risco Familiar   (Portugal)

^d Instituto Portugues de Oncologia de Lisboa Francisco Gentil   (Portugal)

Author keywords

AFAP; APC; FAP; Multiple colorectal adenomas MUTYH

Indexed keywords

APC PROTEIN; DNA GLYCOSYLASE MUTY;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ARTICLE; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; CONTROLLED STUDY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLE CANCER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADENOMA; ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADOLESCENT; ADULT; AGED; ALLELES; COHORT STUDIES; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; FAMILY; GENETIC TESTING; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 70350137074     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01241.x     Document Type: Article

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