Genetic mapping of a locus predisposing to human colorectal cancer

Päivi Peltomäki, Lauri A. Aaltonen, Pertti Sistonen, Lea Pylkkänen, Jukka Pekka Mecklin, Heikki Järvinen, Jane S. Green, Jeremy R. Jass, James L. Weber, Fredrick S. Leach, Gloria M. Petersen, Stanley R. Hamilton, Albert De La Chapelle, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

776 Scopus citations


Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.

Original languageEnglish (US)
Pages (from-to)810-812
Number of pages3
Issue number5109
StatePublished - 1993

ASJC Scopus subject areas

  • General


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