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Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32–31.1


Background: The best known hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), constitute about 2% of all colorectal cancers, and there are at least as many non-FAP, non-HNPCC cases where the family history suggests a dominantly inherited colorectal cancer risk. Recently, a locus on chromosome 9q22.2–31.2 was identified by linkage analysis in sib pairs with colorectal cancer or adenoma.

Methods: Linkage analysis for the suggested locus on chromosome 9 was carried out in an extended Swedish family. This family had previously been investigated but following the identification of adenomas in several previously unaffected family members, these subjects were now considered to be gene carriers.

Results: In the present study, we found linkage of adenoma and colorectal cancer to chromosome 9q22.32–31.1 with a multipoint LOD score of 2.4. We were also able to define the region for this locus to 7.9 cM between the markers D9S280 and D9S277.

Conclusions: Our result supports the presence of a susceptibility locus predisposing to adenoma and colorectal cancer in this chromosomal region.

  • FAP, familial adenomatous polyposis
  • HNPCC, hereditary non-polyposis colorectal cancer
  • LOD, logarithm of odds
  • LOH, loss of heterozygosity
  • MMR, mismatch repair
  • adenoma
  • chromosome 9
  • colorectal cancer
  • linkage analysis

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