MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis

International Journal of Cancer

Volumn 132, Issue 5, 2013, Pages 1060-1069

  Pin, Elisa ^a   Pastrello, Chiara ^a   Tricarico, Rossella ^b   Papi, Laura ^b   Quaia, Michele ^a   Fornasarig, Mara ^a   Carnevali, Ileana ^c   Oliani, Cristina ^d   Fornasin, Alessio ^e   Agostini, Marco ^f,g,h   Maestro, Roberta ^a   Barana, Daniela ^d   Aretz, Stefan ⁱ   Genuardi, Maurizio ^b,j   Viel, Alessandra ^a  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c Presidio Ospedaliero di Varese   (Italy)

^d Ospedale di Montecchio   (Italy)

^e UNIVERSITY OF UDINE   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g HOUSTON METHODIST RESEARCH INSTITUTE   (United States)

^h Fondazione Istituto di Ricerca Pediatrica Città della Speranza   (Italy)

ⁱ UNIVERSITY OF BONN   (Germany)

^j Fiorgen Foundation for Pharmacogenomics   (Italy)

more..

Author keywords

colorectal cancer; founder mutation; lymphoblastoid cell lines; MUTYH; splicing

Indexed keywords

DNA GLYCOSYLASE MUTY; NONFUNCTIONAL PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

AGE; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; COLON POLYPOSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC TRANSCRIPTION; GERMANY; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; ITALY; LYMPHOBLASTOID CELL; MALE; MOLECULAR DIAGNOSIS; MUTYH ASSOCIATED POLYPOSIS; MUTYH GENE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN SYNTHESIS; WESTERN EUROPE; WILD TYPE;

ADENOMATOUS POLYPOSIS COLI; CASE-CONTROL STUDIES; CELL LINE; DNA GLYCOSYLASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ITALY; MUTATION;

EID: 84872859784     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.27761     Document Type: Article

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