Lynch syndrome (LS) is the most common genetic predisposition for hereditary
cancer but remains under-diagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopy surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged.
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 were acquired by three Delphi voting rounds.
Recommendations for clinical and molecular identification of LS, surgical and
endoscopic management of LS-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 LS patients,
colorectal surveillance, surgical management of colorectal cancer, lifestyle and
chemoprevention in LS that reached a consensus (>80%) are presented.