4.8 Article

A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2

Publisher

NATL ACAD SCIENCES
DOI: 10.1073/pnas.2132286100

Keywords

colorectal cancer; colon adenomas; genetic linkage; familial cancers

Funding

  1. NCI NIH HHS [K23 CA081308, P30 CA 43703, U01 CA082901, P30 CA043703, 1K23 CA 81308, U01 CA 82901] Funding Source: Medline
  2. NCRR NIH HHS [M01 RR000080, P41 RR003655, P41 RR 03655, M01 RR 00080] Funding Source: Medline
  3. NHGRI NIH HHS [N01HG65403, N01 HG 65403] Funding Source: Medline
  4. NIGMS NIH HHS [GM 28356, R01 GM028356, R37 GM028356] Funding Source: Medline

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Colorectal cancer is the second most leading cause of cancer death among adult Americans. Two autosomal dominant hereditary forms of the disease, familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, together account for perhaps 5% of all cases. However, in approximate to20% of additional colon cancer cases, the affected individuals report a family history of colon cancer in a first-degree relative. Similar familial clusters of colon cancer and early-onset colon adenomas have also been reported. To determine whether such familial aggregations arise by chance or reflect a hereditary colon cancer susceptibility, we conducted a whole genome scan to test for genetic linkage in 53 kindreds in which two or more siblings were affected by age 65 or younger with colon cancer or with advanced colon adenomas that were >1 cm in size or that showed high-grade dysplasia. In this cohort we found genetic linkage of disease [P = 0.00045) to chromosomal region 9q22.2-31.2 in a pattern consistent with autosomal dominant disease alleles. These data suggest that a single locus can contribute to disease susceptibility in a subset of patients with nonsyndromic forms of familial colorectal neoplasia.

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