ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2008
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01850654 (Ohio Colorectal Cancer Prevention Initiative), which is not on this map. Cited by 408 papers, 9 of them syntheses that pooled it.
What it found
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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
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.
Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome
Who cites it
408 citing papers in PubMed, 9 syntheses or guidelines pooled it, 868 citations in OpenAlex.
- Gynaecological cancer surveillance for women with Lynch syndrome: systematic review and cost-effectiveness evaluation.Health technology assessment (Winchester, England) · 2024Pooled it
- Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment.Annals of coloproctology · 2024Guideline
- Risk of cancer in individuals with Lynch-like syndrome and their families: a systematic review.Journal of cancer research and clinical oncology · 2023Pooled it
- Validity of a two-antibody testing algorithm for mismatch repair deficiency testing in cancer; a systematic literature review and meta-analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Pooled it
- Systematic review: non-endoscopic surveillance for colorectal neoplasia in individuals with Lynch syndrome.Alimentary pharmacology & therapeutics · 2022Pooled it
- Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.Familial cancer · 2022Pooled it
- Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.Familial cancer · 2021Pooled it
- Initiatives to Scale Up and Expand Reach of Cancer Genomic Services Outside of Specialty Clinical Settings: A Systematic Review.American journal of preventive medicine · 2021Pooled 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
- Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial.BMC health services research · 2024Trial
- Family still matters: Counseling patients with complex family histories of colon and endometrial cancers.Molecular genetics & genomic medicine · 2019Trial
- Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.Familial cancer · 2019Trial
- Incidence of Germline Genetic Variants in Patients with a Urinary Tract Cancer and Association with Outcomes.European urology oncology · 2026Article
- Universal Tumor Screening in Colorectal Cancer: Role of MMR Immunohistochemistry for Lynch Syndrome and Early-Onset CRC.Cancers · 2026Article
- Review
- Current Status of the Diagnosis and Treatment of Mismatch Repair Deficient Colorectal Cancer.Biomedicines · 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
- Case Report: A case of Lynch syndrome-related glioblastoma with coexistingFrontiers in oncology · 2026Article
- Article
- WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.PloS one · 2026Article
348 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
purposeIdentifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. PATIENTS AND
methodsMSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed.
resultsAmong the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations.
conclusionOne of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.
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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.