ArticleGastroenterology2021
Gene-Specific Variation in Colorectal Cancer Surveillance Strategies for Lynch Syndrome.
Article in Gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 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
- Systematic review: non-endoscopic surveillance for colorectal neoplasia in individuals with Lynch syndrome.Alimentary pharmacology & therapeutics · 2022Pooled it
- Colorectal Cancer Screening in Hereditary and Familial High-Risk Populations: Best Practices and Future Directions.International journal of cancer · 2026Review
- Uptake and timing of risk-reducing gynecologic surgery among individuals with Lynch syndrome identified via population screening.Familial cancer · 2026Article
- Lynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era.Cancers · 2026Review
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.International journal of molecular sciences · 2026Review
- Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.Intractable & rare diseases research · 2025Review
- Contemporary Surgical Management of Colorectal Cancer in Lynch Syndrome: Considering the Implications of Known Genotype.ANZ journal of surgery · 2025Review
- Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals With Colorectal Cancer and the Impact on At-Risk Relatives.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Article
- Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.Human genetics · 2025Article
- Clinicopathologic and Molecular Characterization of Colorectal Cancer in Patients Aged ≥80 years.Clinical interventions in aging · 2025Article
- Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.Journal of the National Cancer Institute · 2024Article
- Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System.Gastro hep advances · 2024Article
- Combined population genomic screening for three high-risk conditions in Australia: a modelling study.EClinicalMedicine · 2023Article
- Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.Cancers · 2023Article
- Balancing the burden and benefits of colonoscopy in Lynch Syndrome.Familial cancer · 2023Article
- Lynch syndrome: influence of additional susceptibility variants on cancer risk.European journal of human genetics : EJHG · 2023Article
- The Role of Colonoscopy in the Management of Individuals with Lynch Syndrome: A Narrative Review.Cancers · 2023Review
- The "scope" of colorectal cancer screening in Lynch syndrome: is there an optimal interval?Journal of the National Cancer Institute · 2023Article
- Chemoprevention in hereditary digestive neoplasia: A comprehensive review.Therapeutic advances in gastroenterology · 2023Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
aimsLynch syndrome is associated with pathogenic variants in 4 mismatch repair (MMR) genes that increase lifetime risk of colorectal cancer. Guidelines recommend intensive colorectal cancer surveillance with colonoscopy every 1-2 years starting at age 25 years for all carriers of Lynch syndrome-associated variants, regardless of gene product. We constructed a simulation model to analyze the effects of different ages of colonoscopy initiation and surveillance intervals for each MMR gene (MLH1, MSH2, MSH6, and PMS2) on colorectal cancer incidence and mortality, quality-adjusted life-years, and cost.
methodsUsing published literature, we developed a Markov simulation model of Lynch syndrome progression for patients with each MMR variant. The model simulated clinical trials of Lynch syndrome carriers, varying age of colonoscopy initiation (5-year increments from 25-40 years), and surveillance intervals (1-5 years). We assessed the optimal strategy for each gene, defined as the strategy with the highest quality-adjusted life-years and incremental cost-effectiveness ratio below a $100,000 willingness-to-pay threshold.
resultsOptimal surveillance for patients with pathogenic variants in the MLH1 and MSH2 genes was colonoscopy starting at age 25 years, with 1- to 2-year surveillance intervals. Initiating colonoscopy at age 35 and 40 years, with 3-year intervals, was cost-effective for patients with pathogenic variants in MSH6 or PMS2, respectively.
conclusionsWe developed a simulation model to select optimal surveillance starting ages and intervals for patients with Lynch syndrome based on MMR variant. The model supports recommendations for intensive surveillance of patients with Lynch syndrome-associated variants in MLH1 or MSH2. However, for patients with Lynch syndrome-associated variants of MSH6 or PMS2, later initiation of surveillance at 35 and 40 years, respectively, and at 3-year intervals, can be considered.
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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.