ArticleDiseases of the colon and rectum2008
Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.
Article in Diseases of the colon and rectum, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.Familial cancer · 2016Article
- Association between the APC gene D1822V variant and the genetic susceptibility of colorectal cancer.Oncology letters · 2014Article
- Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.PloS one · 2014Article
- Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Mutation research · 2010Review
- Inherited colorectal cancer syndromes.Clinics in colon and rectal surgery · 2009Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeWhereas truncating germline mutations of the adenomatous polyposis coli (APC) gene give rise to familial adenomatous polyposis, missense polymorphisms of APC may confer a weaker risk for colorectal cancer.
methodsWe sequenced the entire open reading frame of the APC gene and tested for two common MYH mutations in a population-based series of patients with colorectal cancer and 5 to 99 adenomas. Missense adenomatous polyposis coli alterations identified in this colorectal cancer multiple-polyp population were analyzed in a population-based series of patients with colorectal cancer and healthy control subjects.
resultsGermline APC or mutY human homologue (MYH) alterations were identified in 16 of 39 colorectal cancer-multiple polyp patients. Four missense APC gene alterations (S130G, E1317Q, D1822V, G2502S) were observed in 13 individuals and 3 additional patients carried presumed pathogenic (APC Y94X, biallelic MYH Y165C and heterozygous MYH G382D) mutations. When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27).
conclusionsGermline missense APC alterations observed in 33 percent of patients with multiple colorectal neoplasms seemed to play a limited role in colorectal cancer risk when independently assessed by a population-based, case-control analysis.
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