Clues to the pathogenesis of familial colorectal cancer

Lauri A. Aaltonen, Päivi Peltomäki, Fredrick S. Leach, Pertti Sistonen, Lea Pylkkänen, Jukka Pekka Mecklin, Heikki Järvinen, Steven M. Powell, Jin Jen, Stanley R. Hamilton, Gloria M. Petersen, Kenneth W. Kinzler, Bert Vogelstein, Albert De La Chapelle

Research output: Contribution to journalArticlepeer-review

2482 Scopus citations


A predisposition to colorectal cancer is shown to be linked to markers on chromosome 2 in some families. Molecular features of "familial" cancers were compared with those of sporadic colon cancers. Neither the familial nor sporadic cancers showed loss of heterozygosity for chromosome 2 markers, and the incidence of mutations in KRAS, P53, and ARC was similar in the two groups of tumors. Most of the familial cancers, however, had widespread alterations in short repeated DNA sequences, suggesting that numerous replication errors had occurred during tumor development. Thirteen percent of sporadic cancers had identical abnormalities and these cancers shared biologic properties with the familial cases. These data suggest a mechanism for familial tumorigenesis different from that mediated by classic tumor suppressor genes.

Original languageEnglish (US)
Pages (from-to)812-816
Number of pages5
Issue number5109
StatePublished - 1993

ASJC Scopus subject areas

  • General


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