Abstract
Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged. The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed a multidisciplinary working group consisting of surgeons, clinical and molecular geneticists, pathologists, epidemiologists, gastroenterologists, and patient representation to conduct a graded evidence review. The previous Mallorca guideline format was used to revise the clinical guidance. Consensus for the guidance statements was acquired by three Delphi voting rounds. Recommendations for clinical and molecular identification of Lynch syndrome, surgical and endoscopic management of Lynch syndrome-associated colorectal cancer, and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum. Manchester consensus guidelines for gynaecological management were endorsed. Executive and layperson summaries were provided. The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.
Highlights
Lynch syndrome (LS) (OMIM #120435) is the most common dominantly inherited cancer syndrome but is often not recognized[2,3]
Colonoscopy is recommended every 2 or 3 years for path_MLH1, path_MSH2 and path_MSH6 carriers, unless they have had colorectal cancer before, after which biennial colonoscopy is recommended
Identification of LS Amsterdam criteria and/or revised Bethesda criteria are not sufficient to guide tumour testing owing to low sensitivity in detection of patients with LS All colorectal cancers should be tested by MMR (MLH1, MSH2, MSH6, PMS2) immunohistochemistry or MSI testing to screen for LS Immunohistochemistry performed on preoperative colorectal cancer biopsies is at least as accurate as that performed on resection specimens
Summary
Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Conclusion: The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented. People carrying inherited path_MMR or inherited epigenetically silenced variants of these genes are referred to as carriers. Carriers have an increased risk of developing colorectal, endometrial, ovarian, urinary tract, prostate and other cancers, depending on which gene is malfunctioning. The average risk for cancer stratified by gene, organ, gender and age is available at http://www.PLSD.eu. This resource allows personalized genetic counselling to support decision-making. If not limited by resources, all those with colorectal or endometrial cancer can undergo direct germline testing for path_MMR. The established clinical criteria may be used for selecting people without cancer to be genetically tested
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