ArticleJAMA2012
Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.
Article in JAMA, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 9 of them syntheses that pooled it.
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Who cites it
106 citing papers in PubMed, 9 syntheses or guidelines pooled it, 238 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- The Chinese Society of Clinical Oncology (CSCO): Clinical guidelines for the diagnosis and treatment of colorectal cancer, 2024 update.Cancer communications (London, England) · 2025Guideline
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- Pooled it
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- Guideline
- Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer.The American journal of gastroenterology · 2020Guideline
- Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 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
- Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients.Cancer medicine · 2026Article
- Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.The American journal of gastroenterology · 2026Review
- Protective Effects of Plant-Based Diets Against Colorectal Carcinogenesis via Modulation of Key Cellular and Molecular Mechanisms: A Comprehensive Review of Evidence.Current oncology (Toronto, Ont.) · 2026Review
- Genetic landscape of Chinese colorectal cancer: insights into germline and somatic mutations.BMC cancer · 2026Article
- Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.Virchows Archiv : an international journal of pathology · 2025Article
- Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.Familial cancer · 2025Article
- Two cases of genetic testing for familial adenomatous polyposis without a family history.International cancer conference journal · 2025Article
- Expanding the genetic landscape of colorectal polyposis: Progress and challenges.World journal of gastroenterology · 2025Article
- Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.World journal of gastroenterology · 2025Article
- Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis.Clinical epigenetics · 2025Article
46 more citing papers are in PubMed but not listed here.
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8 authors at 5 institutions in 1 country.
Funding
Abstract
contextPatients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes.
objectivesTo determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prevalence and clinical characteristics of APC and MUTYH mutation carriers. DESIGN, SETTING, AND
participantsCross-sectional study conducted among 8676 individuals who had undergone full gene sequencing and large rearrangement analysis of the APC gene and targeted sequence analysis for the 2 most common MUTYH mutations (Y179C and G396D) between 2004 and 2011. Individuals with either mutation underwent full MUTYH gene sequencing. APC and MUTYH mutation prevalence was evaluated by polyp burden; the clinical characteristics associated with a pathogenic mutation were evaluated using logistic regression analyses.
main outcome measurePrevalence of pathogenic mutations in APC and MUTYH genes.
resultsColorectal adenomas were reported in 7225 individuals; 1457 with classic polyposis (≥100 adenomas) and 3253 with attenuated polyposis (20-99 adenomas). The prevalence of pathogenic APC and biallelic MUTYH mutations was 95 of 119 (80% [95% CI, 71%-87%]) and 2 of 119 (2% [95% CI, 0.2%-6%]), respectively, among individuals with 1000 or more adenomas, 756 of 1338 (56% [95% CI, 54%-59%]) and 94 of 1338 (7% [95% CI, 6%-8%]) among those with 100 to 999 adenomas, 326 of 3253 (10% [95% CI, 9%-11%]) and 233 of 3253 (7% [95% CI, 6%-8%]) among those with 20 to 99 adenomas, and 50 of 970 (5% [95% CI, 4%-7%]) and 37 of 970 (4% [95% CI, 3%-5%]) among those with 10 to 19 adenomas. Adenoma count was strongly associated with a pathogenic mutation in multivariable analyses.
conclusionsAmong patients with multiple colorectal adenomas, pathogenic APC and MUTYH mutation prevalence varied considerably by adenoma count, including within those with a classic polyposis phenotype. APC mutations predominated in patients with classic polyposis, whereas prevalence of APC and MUTYH mutations was similar in attenuated polyposis. These findings require external validation.
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