ArticleTherapeutic advances in gastroenterology2017
Universal molecular screening does not effectively detect Lynch syndrome in clinical practice.
Article in Therapeutic advances in gastroenterology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 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
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled 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
- Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial.BMC health services research · 2024Trial
- Uptake of germline testing for Lynch Syndrome in patients with deficient mismatch repair/ microsatellite-high colorectal cancer in the public hospital system in South Australia.Familial cancer · 2026Article
- Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.European journal of human genetics : EJHG · 2026Article
- Impact of COVID-19 on Universal Tumor Screening, Referral Rates and Attendance at Cancer Genetic Counseling at a Safety-Net University Hospital.Current oncology (Toronto, Ont.) · 2025Article
- Barriers and Facilitators in Diagnostic Pathways That Align Universal Tumor Screening and Mainstream Genetic Testing for Lynch Syndrome in Colorectal Cancer: Protocol for a Scoping Review With a Narrative Synthesis.JMIR research protocols · 2025Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.Hereditary cancer in clinical practice · 2022Article
- Article
- Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease.Molecular and clinical oncology · 2021Article
- Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico.Journal of racial and ethnic health disparities · 2021Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Article
- Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.Cancer medicine · 2019Article
- Article
- Article
- Barriers to Lynch Syndrome Testing and Preoperative Result Availability in Early-onset Colorectal Cancer: A National Physician Survey Study.Clinical and translational gastroenterology · 2018Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center.
methodsWe conducted a prospective, consecutive case series study of universal IHC testing on cases of resected CRC from September 2004-December 2013. Referred cases with abnormal IHC results that attended a familial cancer clinic were assessed according to modified Bethesda criteria (until 2009) or molecular criteria (from 2009).
results1612 individuals underwent resection for CRC in the study period and had MMR testing by IHC. Of these, 274 cases (16.9%) exhibited loss of expression of MMR genes. The mean age at CRC diagnosis was 68.1 years (± standard deviation 12.7) and the mean age of those with an IHC abnormality was 71.6 (± 11.8). A total of 82 (29.9%) patients with an abnormal result were seen in a subspecialty familial cancer clinic. Patients aged under 50 (
conclusionsWhile technically accurate, the yield of 'universal' IHC in detecting new Lynch probands is limited by real-world factors that reduce referrals and genetic testing. We propose an alternative approach for universal, incident case detection of Lynch syndrome with 'one-stop' MMR testing and sequencing.
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