Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients

Scandinavian Journal of Gastroenterology

Volumn 48, Issue 6, 2013, Pages 672-678

  Tanskanen, Tomas ^a   Gylfe, Alexandra E ^a   Katainen, Riku ^a   Taipale, Minna ^b,e   Renkonen Sinisalo, Laura ^c   Mecklin, Jukka Pekka ^d   Järvinen, Heikki ^c   Tuupanen, Sari ^a   Kilpivaara, Outi ^a   Vahteristo, Pia ^a   Aaltonen, Lauri A ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF EASTERN FINLAND   (Finland)

^e KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Age of onset; Colorectal neoplasms; Exome; Genetic predisposition to disease; Mutation

Indexed keywords

APC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; DNA GLYCOSYLASE MUTY; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; SMAD4 PROTEIN;

ADULT; ADVANCED CANCER; ARTICLE; CLINICAL ARTICLE; COLORECTAL CANCER; DIAGNOSTIC VALUE; EXOME; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; FEMALE; GASTROINTESTINAL POLYPOSIS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; MICROSATELLITE INSTABILITY; ONSET AGE; POLYPOSIS; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADENOSINE TRIPHOSPHATASES; ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA GLYCOSYLASES; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INTESTINAL POLYPOSIS; MALE; MICROSATELLITE INSTABILITY; MUTS HOMOLOG 2 PROTEIN; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEAR PROTEINS; PROTEIN-SERINE-THREONINE KINASES; PTEN PHOSPHOHYDROLASE; SEQUENCE ANALYSIS, DNA; SMAD4 PROTEIN; YOUNG ADULT;

EID: 84878425463     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.3109/00365521.2013.783102     Document Type: Article

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