Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

Cancer Research

Volumn 64, Issue 14, 2004, Pages 4721-4727

  Nakagawa, Hidewaki ^a   Lockman, Janet C ^a   Frankel, Wendy L ^b   Hampel, Heather ^a   Steenblock, Kelle ^c   Burgart, Lawrence J ^c   Thibodeau, Stephen N ^c   De La Chapelle, Albert ^a,d  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c MAYO CLINIC   (United States)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1;

ADULT; AGED; ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MMR GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PMS2 GENE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; ALLELES; BASE PAIR MISMATCH; BLOTTING, WESTERN; CARRIER PROTEINS; COLORECTAL NEOPLASMS; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; EXONS; FEMALE; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; NEOPLASM PROTEINS; NUCLEAR PROTEINS;

EID: 3142748325     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-03-2879     Document Type: Article

References (24)

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