Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification

International Journal of Cancer

Volumn 123, Issue 3, 2008, Pages 720-724

  Ollila, Saara ^a   Bebek, Denis Dermadi ^a   Greenblatt, Marc ^b   Nyström, Minna ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

Author keywords

Functional analysis; Hereditary non polyposis colorectal cancer; Mismatch repair; MSH2; Unclassified variant

Indexed keywords

PROTEIN MSH2; PROTEIN MSH6;

ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERM LINE; HUMAN; IMMUNOPRECIPITATION; IN VITRO STUDY; MISMATCH REPAIR; MISSENSE MUTATION; MOLECULAR RECOGNITION; MSH2 GENE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEIN VARIANT; WILD TYPE;

ASPARAGINE; ASPARTIC ACID; BILIARY TRACT NEOPLASMS; BLOTTING, WESTERN; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; GLYCINE; HUMANS; IMMUNOPRECIPITATION; MUTS HOMOLOG 2 PROTEIN; PANCREATIC NEOPLASMS; SERINE; UNCERTAINTY;

EID: 46049104410     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.23573     Document Type: Article

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