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

Nat Genet. 1993 Nov;5(3):279-82. doi: 10.1038/ng1193-279.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA, Satellite
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • DNA, Satellite