Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

Gastroenterology

Volumn 147, Issue 3, 2014, Pages

  Nieminen, Taina T ^a   O'Donohue, Marie Françoise ^c,d   Wu, Yunpeng ^e,f   Lohi, Hannes ^b,g   Scherer, Stephen W ^h,i   Paterson, Andrew D ^h   Ellonen, Pekka ^b   Abdel Rahman, Wael M ^a,j   Valo, Satu ^a,b   Mecklin, Jukka Pekka ^k,l   Järvinen, Heikki J ^m   Gleizes, Pierre Emmanuel ^c,d   Peltomäki, Päivi ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c Université Paul Sabatier   (France)

^d CNRS   (France)

^e OHIO STATE UNIVERSITY   (United States)

^f OUHCOM   (United States)

^g FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j UNIVERSITY OF SHARJAH   (United Arab Emirates)

^k JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

^l UNIVERSITY OF EASTERN FINLAND   (Finland)

^m HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

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Author keywords

Colon Cancer; Exome Sequencing; Hereditary Nonpolyposis Colorectal Cancer; Ribosome

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; RIBOSOME PROTEIN; RIBOSOME RNA;

ADULT; ARTICLE; CANCER DIAGNOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXOME; GENE; GENE SEQUENCE; GENETIC LINKAGE; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN CELL; MISMATCH REPAIR; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RPS20 GENE; SMALL RIBOSOMAL SUBUNIT;

COLON CANCER; EXOME SEQUENCING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; RIBOSOME;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; EXOSOMES; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HEREDITY; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; RIBOSOMAL PROTEINS; RISK FACTORS;

EID: 84906536851     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.06.009     Document Type: Article

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