Epitope-positive truncating MLH1 mutation and loss of PMS2: Implications for IHC-directed genetic testing for lynch syndrome

Familial Cancer

Volumn 8, Issue 4, 2009, Pages 501-504

  Zighelboim, Israel ^a   Powell, Matthew A ^a   Babb, Sheri A ^a   Whelan, Alison J ^b   Schmidt, Amy P ^a   Clendenning, Mark ^c   Senter, Leigha ^c   Thibodeau, Stephen N ^d   De La Chapelle, Albert ^c   Goodfellow, Paul J ^a  

^a WASHINGTON UNIVERSITY   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d MAYO CLINIC   (United States)

Author keywords

Immunohistochemistry; Lynch syndrome; Microsatellite instability; Mismatch repair genes; MLH1; PMS2; Testing

Indexed keywords

DNA; EPITOPE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ARTICLE; CARBOXY TERMINAL SEQUENCE; COLON CANCER; COLORECTAL CANCER; ENDOMETRIUM CANCER; EXON; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MLH1 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PMS2 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; EPITOPES; FEMALE; GENETIC TESTING; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 70449536487     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9276-2     Document Type: Article

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