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DOI 10.1016/j.gim.2026.102610

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2026

Cancer surveillance in Lynch syndrome: A scoping review of international and national guidelines.

McKenzie Madeleine, Quinn Maya, Stockley Cecily, Wood Melissa, Isherwood Susan, Quan May Lynn

СтатьяScoping ReviewОбзорПеревод в очереди

Аннотация

Lynch syndrome is the most common hereditary cancer predisposition syndrome and confers substantial lifetime risk for colorectal, endometrial, ovarian, gastric, urothelial, and other malignancies. Colonoscopy and risk-reducing strategies substantially reduce morbidity and mortality; however, international and national guidelines vary widely in scope, recommended surveillance modalities, timing, intervals, and evidence grading. In this study, we conducted a scoping review to map and compare cancer surveillance, risk-reducing surgery, and chemoprevention recommendations for Lynch syndrome and identify areas of consensus, divergence, and evidence gaps. We searched PubMed, Embase, Cochrane Library, and professional society and health-agency websites (January 2025; updated August 2025) for English-language guidelines published between 2015 and 2025. Thirty-three guidelines met the inclusion criteria. Colonoscopy was universally endorsed, but recommended initiation ages ranged from 20 to 35 years and intervals from 1 to 3 years, depending on the mismatch repair gene, with shorter intervals for individuals with pathogenic variants in MLH1 or MSH2. Recommendations for extracolonic surveillance varied substantially; most guidelines supported endometrial biopsy and consideration of prophylactic hysterectomy with bilateral salpingo-oophorectomy after childbearing. Gastric, pancreatic, urothelial, and other screening strategies were inconsistently endorsed, often limited to selected high-risk subgroups. Aspirin chemoprevention was widely supported despite dose variability. These findings highlight opportunities for harmonization, gene-stratified precision prevention, and higher-quality prospective evidence to guide care.

Для цитирования: McKenzie Madeleine, Quinn Maya, Stockley Cecily, Wood Melissa, Isherwood Susan, Quan May Lynn. Cancer surveillance in Lynch syndrome: A scoping review of international and national guidelines.. Genetics in medicine : official journal of the American College of Medical Genetics. 2026. DOI: 10.1016/j.gim.2026.102610.

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