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Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer patients
Author(s) -
Luce Michael C.,
Binnie Cameron G.,
Cayouette Matthew C.,
KamMorgan Lauren N. W.
Publication year - 1996
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19960220)69:1<50::aid-ijc12>3.0.co;2-o
Subject(s) - dna mismatch repair , genetics , germline mutation , gene , germline , biology , dna repair , mutation , cancer research
Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutations generate a premature stop codon and ultimately result in the synthesis of a truncated protein. We have employed an in vitro transcription/translation assay to identify germline mutations in DNA mismatch repair genes from patients suspected of belonging to HNPCC kindreds. Our results suggest that this approach will be highly effective in identifying mutations in these patients and may lead to a reliable diagnostic test for the pre‐symptomatic identification of HNPCC. © 1996 Wiley‐Liss, Inc.