Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

Human Mutation

Volumn 33, Issue 12, 2012, Pages 1617-1625

  Rasmussen, Lene Juel ^a   Heinen, Christopher D ^b   Royer Pokora, Brigitte ^c   Drost, Mark ^e   Tavtigian, Sean ^f   Hofstra, Robert M W ^d   de Wind, Niels ^e  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^c Department of Orthopedic Surgery   (Germany)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF UTAH   (United States)

Author keywords

Functional assays; HNPCC; Lynch syndrome; Mismatch repair genes; Missense mutations

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MSH2;

BIOCHEMISTRY; CANCER SUSCEPTIBILITY; COMPUTER MODEL; DNA DAMAGE; DNA SPLICING; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MISMATCH REPAIR; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW;

ANIMALS; CELL-FREE SYSTEM; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA DAMAGE; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; GENETIC COMPLEMENTATION TEST; HUMANS; MUTATION; PROTEIN INTERACTION MAPPING; YEASTS;

EID: 84869085336     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22168     Document Type: Review

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