ArticleEuropean journal of human genetics : EJHG2014
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotypes.Genes & diseases · 2027Article
- Whole Exome-Wide Association Identifies Rare Variants inCancers · 2024Article
- Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.JCO precision oncology · 2024Article
- Review
- A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.Molecular medicine reports · 2018Article
- Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.The American journal of gastroenterology · 2017Review
- Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate.Familial cancer · 2016Article
- How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.Cold Spring Harbor perspectives in medicine · 2016Review
- Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview.Case reports in surgery · 2014Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Colorectal cancer (CRC) risk is well defined for families of patients with classical familial adenomatous polyposis (FAP). However, the risk for those with an attenuated form of FAP is less well characterised. In this study, we estimated CRC risks for carriers of a novel germline mutation in the APC gene that causes attenuated FAP (AFAP). We performed genetic testing on 53 individuals from seven AFAP families harbouring an identical APC:c.288T>A mutation. Using a modified segregation analysis, we estimated relative and absolute CRC risks for mutation carriers. Twenty-three individuals harboured the disease causing mutation. CRC occurred in 28 individuals (mean 61.7 years, range 32-80 years). The estimated CRC relative risks for mutation carriers aged 60-69 and ≥70 years were 19 (95% CI: 1.77-204.08) and 45 (95% CI: 11.32-180.10), respectively, while the absolute CRC lifetime risk for men was 94% (95% CI: 67.5-99.9%), and for women, 84% (95% CI: 50.9-99.0%). This study shows that AFAP can manifest as autosomal dominant late-onset CRC. These findings highlight a subgroup of inherited CRCs that require new criteria for identification and surveillance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.