Replication Errors in Benign and Malignant Tumors from Hereditary Nonpolyposis Colorectal Cancer Patients

Lauri A. Aaltonen, Päivi Peltomäki, Jukka Pekka Mecklin, Heikki Järvinen, Jeremy R. Jass, Jane S. Green, Henry T. Lynch, Patrice Watson, Gustav Tallqvist, Matti Juhola, Pertti Sistonen, Stanley R. Hamilton, Kenneth W. Kinzler, Bert Vogelstein, Albert de la Chapelle

Research output: Contribution to journalArticlepeer-review

594 Scopus citations


A replication error (RER) phenotype has been documented both in sporadic colorectal tumors and in tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC). In the current study 8 of 49 (16%) sporadic colorectal cancers (CRCs) and 25 of 29 (86%) CRCs from HNPCC patients were found to be RER+. All 9 (100%) CRCs from HNPCC patients with germline mutations of the mismatch repair gene MSH2 were found to be RER+, while 16 of 20 CRCs from HNPCC kindreds unlinked or not studied for linkage to MSH2 were RER+. Corresponding analysis in colorectal adenomas revealed that only 1 of 33 (3%) sporadic tumors but 8 of 14 (57%) HNPCC tumors were RER+. Moreover, RER was found in all 6 extracolonic cancers (endometrium, 2; kidney, 1; stomach, 1; duodenum, 1; and ovary, 1) derived from members of HNPCC families. These data suggest the involvement of mismatch repair deficiency in the premalignant stage of tumorigenesis in HNPCC cases, and suggest that mismatch repair genes (MSH2 or others) are defective in the germline of nearly all these patients.

Original languageEnglish (US)
Pages (from-to)1645-1648
Number of pages4
JournalCancer Research
Issue number7
StatePublished - Apr 1994

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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