A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

Journal of Human Genetics

Volumn 55, Issue 1, 2010, Pages 37-41

  Perera, Sheron ^a,b   Ramyar, Lily ^b   Mitri, Angie ^b   Pollett, Aaron ^a,b   Gallinger, Steven ^a,b,c   Speevak, Marsha D ^d   Aronson, Melyssa ^b   Bapat, Bharati ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c TORONTO GENERAL HOSPITAL   (Canada)

^d CREDIT VALLEY HOSPITAL   (Canada)

Author keywords

Complex mutation; HNPCC; Lynch Syndrome; MMR; MSH2; Muir Torre Syndrome

Indexed keywords

PROTEIN MSH2;

ADULT; ARTICLE; CANCER DIAGNOSIS; CASE REPORT; CLINICAL FEATURE; COLORECTAL CANCER; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MUIR TORRE SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN EXPRESSION;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPUTATIONAL BIOLOGY; DNA MISMATCH REPAIR; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MUIR-TORRE SYNDROME; MUTS HOMOLOG 2 PROTEIN; PEDIGREE;

EID: 76149109127     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.119     Document Type: Article

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