title: A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2.
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.
authors.affiliation: Department of Genetics, Center for Human Genetics, Ireland Comprehensive Cancer Center, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA.
authors.forename: Georgia L
authors.initials: GL
authors.lastname: Wiesner
authors.forename: Denise
authors.initials: D
authors.lastname: Daley
authors.forename: Susan
authors.initials: S
authors.lastname: Lewis
authors.forename: Christine
authors.initials: C
authors.lastname: Ticknor
authors.forename: Petra
authors.initials: P
authors.lastname: Platzer
authors.forename: James
authors.initials: J
authors.lastname: Lutterbaugh
authors.forename: Melissa
authors.initials: M
authors.lastname: MacMillen
authors.forename: Boris
authors.initials: B
authors.lastname: Baliner
authors.forename: Joseph
authors.initials: J
authors.lastname: Willis
authors.forename: Robert C
authors.initials: RC
authors.lastname: Elston
authors.forename: Sanford D
authors.initials: SD
authors.lastname: Markowitz
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003110:Colonic Neoplasms / Q000145:classification / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000145:classification / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D035781:Siblings
chemical_list: D005819:Genetic Markers; D004247:DNA