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

TitleA subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2.
Publication TypeJournal Article
Year of Publication2003
AuthorsWiesner, GL, Daley, D, Lewis, S, Ticknor, C, Platzer, P, Lutterbaugh, J, MacMillen, M, Baliner, B, Willis, J, Elston, RC, Markowitz, SD
JournalProc Natl Acad Sci U S A
Volume100
Issue22
Pagination12961-5
Date Published2003 Oct 28
ISSN0027-8424
KeywordsAlleles, Chromosome Mapping, Chromosomes, Human, Pair 9, Colonic Neoplasms, Colorectal Neoplasms, DNA, Female, Genetic Markers, Humans, Male, Siblings
Abstract

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 approximately 20% 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.

DOI10.1073/pnas.2132286100
Alternate JournalProc. Natl. Acad. Sci. U.S.A.
PubMed ID14566058
PubMed Central IDPMC240727
Grant List1K23 CA 81308 / CA / NCI NIH HHS / United States
GM 28356 / GM / NIGMS NIH HHS / United States
M01 RR 00080 / RR / NCRR NIH HHS / United States
N01 HG 65403 / HG / NHGRI NIH HHS / United States
P30 CA 43703 / CA / NCI NIH HHS / United States
P41 RR 03655 / RR / NCRR NIH HHS / United States
U01 CA 82901 / CA / NCI NIH HHS / United States