Home LiteratureArticle Details
PMID: 42206489 Published · aheadofprint English

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

McKenzie M, Quinn M, Stockley C, Wood M, Isherwood S, Quan ML

Abstract

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.

Keywords
Cancer surveillance Clinical guidelines Colorectal cancer screening Extracolonic cancer screening Lynch Syndrome
Article Info
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Abbr.
Genet Med
ISSN
1530-0366
Published
2026-05-27
Language
English
Country/Region
United States
NLM ID
9815831
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com