ArticleAmerican journal of human genetics1999
Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) onJournal of medical genetics · 2023Pooled it
- Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics. Joint Test and Technology Transfer Committee Working Group.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- Interaction of polymorphisms in mitotic regulator genes with cigarette smoking and pancreatic cancer risk.Molecular carcinogenesis · 2013Trial
- A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.Familial cancer · 2025Review
- Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.BJC reports · 2024Article
- Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway.Journal of cellular and molecular medicine · 2020Article
- Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.Journal of genetic counseling · 2018Article
- Outcomes of retesting BRCA negative patients using multigene panels.Familial cancer · 2017Article
- Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.Oncology letters · 2017Article
- miR-582-5P induces colorectal cancer cell proliferation by targeting adenomatous polyposis coli.World journal of surgical oncology · 2016Article
- Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.Familial cancer · 2016Article
- Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Genome research · 2015Article
- Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.PLoS genetics · 2014Article
- Inherited colorectal cancer syndromes.Clinics in colon and rectal surgery · 2009Article
- Review
- Factors influencing uptake of genetic testing for colorectal cancer risk in an Australian Jewish population.Journal of genetic counseling · 2005Article
- Colorectal cancer: epidemiology, risk factors, and health services.Clinics in colon and rectal surgery · 2005Article
- Smoking-gene interaction and disease development: relevance to pancreatic cancer and atherosclerosis.World journal of surgery · 2005Review
- Colonic Adenomas Do Not Cosegregate with the I1307K APC Missense Mutation in an Israeli Non-Ashkenazi Family.Digestive diseases and sciences · 2005Article
- Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line and somatic truncating mutations of the APC gene are thought to initiate colorectal tumor formation in familial adenomatous polyposis syndrome and sporadic colorectal carcinogenesis, respectively. Recently, an isoleucine-->lysine polymorphism at codon 1307 (I1307K) of the APC gene has been identified in 6%-7% of the Ashkenazi Jewish population. To assess the risk of this common APC allelic variant in colorectal carcinogenesis, we have analyzed a large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and.or colorectal cancer, for the APC I1307K polymorphism. The APC I1307K allele was identified in 48 (10.1%) of 476 patients. Compared with the frequency in two separate population control groups, the APC I1307K allele is associated with an estimated relative risk of 1.5-1.7 for colorectal neoplasia (both P=.01). Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis. We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer. The estimated relative risk for carriers may justify specific clinical screening for the 360,000 Americans expected to harbor this allele, and genetic testing in the setting of long-term-outcome studies may impact significantly on colorectal cancer prevention in this population.
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