ArticleGastroenterology2013
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
Article in Gastroenterology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 77 citations in OpenAlex.
- Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.European journal of human genetics : EJHG · 2025Article
- Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.Frontiers in oncology · 2025Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Lhermitte-Duclos Disease: A Case Series.Cureus · 2023Article
- Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Early-Onset Colorectal Cancer: Current Insights.Cancers · 2023Review
- A co-regulatory network ofAmerican journal of cancer research · 2023Article
- Cost-Effectiveness of Colorectal Cancer Genetic Testing.International journal of environmental research and public health · 2021Article
- Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.BMC medical genetics · 2020Article
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.The New England journal of medicine · 2020Article
- Early-onset renal cell carcinoma inNPJ genomic medicine · 2020Article
- Juvenile polyposis syndrome.Clinical case reports · 2020Article
- Review
- Attenuated polyposis of the large bowel: a morphologic and molecular approach.Familial cancer · 2017Observational
- Genetic Testing for Polyposis Syndromes.Clinics in colon and rectal surgery · 2016Review
- Genetic basis of Cowden syndrome and its implications for clinical practice and risk management.The application of clinical genetics · 2016Review
- Review
- Syndromic and sporadic inflammatory/hyperplastic small-bowel polyps: a comparative study.Gastroenterology report · 2015Article
- Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Article
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
BACKGROUND &
aimsGastrointestinal polyposis is a common clinical problem, yet there is no consensus on how to best manage patients with moderate-load polyposis. Identifying genetic features of this disorder could improve management and especially surveillance of these patients. We sought to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4, ENG, and STK11 in individuals with ≥5 gastrointestinal polyps, including at least 1 hamartomatous or hyperplastic/serrated polyp.
methodsWe performed a prospective, referral-based study of 603 patients (median age: 51 years; range, 2-89 years) enrolled from June 2006 through January 2012. Genomic DNA was extracted from peripheral lymphocytes and analyzed for specific mutations and large rearrangements in PTEN, BMPR1A, SMAD4, and STK11, as well as mutations in ENG. Recursive partitioning analysis was used to determine cutoffs for continuous variables. The prevalence of mutations was compared using Fisher's exact test. Logistic regression analyses were used to determine univariate and multivariate risk factors.
resultsOf 603 patients, 119 (20%) had a personal history of colorectal cancer and most (n = 461 [76%]) had <30 polyps. Seventy-seven patients (13%) were found to have polyposis-associated mutations, including 11 in ENG (1.8%), 13 in PTEN (2.2%), 13 in STK11 (2.2%), 20 in BMPR1A (3.3%), and 21 in SMAD4 (3.5%). Univariate clinical predictors for risk of having these mutations included age at presentation younger than 40 years (19% vs 10%; P = .008), a polyp burden of ≥30 (19% vs 11%; P = .014), and male sex (16% vs 10%; P = .03). Patients who had ≥1 ganglioneuroma (29% vs 2%; P < .001) or presented with polyps of ≥3 histologic types (20% vs 2%; P = .003) were more likely to have germline mutations in PTEN.
conclusionsAge younger than 40 years, male sex, and specific polyp histologies are significantly associated with risk of germline mutations in hamartomatous-polyposis associated genes. These associations could guide clinical decision making and further investigations.
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