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Nat Genet. 1993 Nov;5(3):279-82.

Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.

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Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.


Hereditary colon cancer is caused by mutations in several different loci. The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary-non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. One gene causing HNPCC was recently mapped to chromosome 2 but the same study also showed that at least one additional locus may cause HNPCC. We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder.

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