ArticleClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2008
American founder mutation for attenuated familial adenomatous polyposis.
Article in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial.European journal of human genetics : EJHG · 2026Trial
- Current Surgical Concepts in Lynch Syndrome and Familial Adenomatous Polyposis.Visceral medicine · 2023Review
- Evidence-based clinical practice guidelines for management of colorectal polyps.Journal of gastroenterology · 2021Review
- Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.The American journal of case reports · 2020Article
- The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE).American journal of ophthalmology case reports · 2019Article
- Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.The American journal of gastroenterology · 2017Review
- Current dichotomy between traditional molecular biological and omic research in cancer biology and pharmacology.World journal of clinical oncology · 2015Article
- APC promoter 1B deletion in seven American families with familial adenomatous polyposis.Clinical genetics · 2015Article
- Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.Gastroenterology · 2013Article
- A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2012Article
- Shared genomic segment analysis: the power to find rare disease variants.Annals of human genetics · 2012Article
- Barrett esophagus with progression to adenocarcinoma in multiple family members with attenuated familial polyposis.Gastroenterology & hepatology · 2011Article
- Maximum-likelihood estimation of recent shared ancestry (ERSA).Genome research · 2011Article
- Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: a population-based study.Arthritis and rheumatism · 2010Article
- Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.Familial cancer · 2010Article
- Large intron 14 rearrangement in APC results in splice defect and attenuated FAP.Human genetics · 2010Article
- DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.Neuromuscular disorders : NMD · 2009Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND &
aimsSpecific mutations in the adenomatous polyposis coli (APC) gene can lead to an attenuated form of familial adenomatous polyposis (AFAP). Although AFAP mutation carriers have a 69% risk of colorectal cancer by age 80, clinical recognition remains a challenge in some cases because they present with few colonic adenomas and are difficult to distinguish clinically from patients with sporadic polyps.
methodsFamily relationships were established using family history reports, the Utah Population Database, and the public records of the Mormon Church. Genetic analysis of representative family members was performed using a 10,000 single nucleotide polymorphism array platform. Colonoscopy data were available on 120 individuals with the AFAP mutation.
resultsTwo large AFAP kindreds with the identical APC disease-causing mutation (c.426_427delAT) were linked to a founding couple who came to America from England around 1630. Genetic analysis showed that the 2 families share a conserved haplotype of 7.17 Mbp surrounding the mutant APC allele. The data show that 36.6% of the mutation-positive family members have fewer than 10 colonic adenomatous polyps, and 3 (6.8%) of these individuals were diagnosed with colorectal cancer.
conclusionsIn view of the apparent age of this mutation, a notable fraction of both multiple-adenoma patients and perhaps even colon cancer cases in the United States could be related to this founder mutation. The colon cancer risk associated with the mutation makes genetic testing of considerable importance in patients with a personal or family history of either colonic polyps or cancer at a young age.
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