Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer
Païvi Peltomäki(University of Helsinki), Lauri A. Aaltonen(University of Helsinki), Pertti Sistonen(Finnish Red Cross), Lea Pylkkänen(University of Helsinki), Jukka‐Pekka Mecklin(Central Finland Health Care District), Heikki Järvinen(Helsinki University Hospital), Jane S. Green(Memorial University of Newfoundland), Jeremy R. Jass(University of Auckland), James L. Weber(Marshfield Clinic), Fredrick S. Leach(Johns Hopkins University), Gloria M. Petersen(Johns Hopkins University), Stanley R. Hamilton(Johns Hopkins University), Albert de la Chapelle(University of Helsinki), Bert Vogelstein(Johns Hopkins University)
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Abstract
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.
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