ArticleESMO gastrointestinal oncology2025
Feasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.
Article in ESMO gastrointestinal oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Lynch syndrome (LS) is an autosomal dominant disorder associated with a heightened risk of specific cancers, caused by germline mutations in the mismatch repair (MMR) system, which leads to microsatellite instability (MSI). MSI-positive colorectal cancer (CRC) patients have an increased likelihood of LS. Despite this, LS germline genetic testing is not reimbursed by the National Health Authorities in Greece. To address this gap, the Hellenic Society of Medical Oncology (HeSMO) initiated a national program to screen and diagnose CRC patients with LS. Materials and methods: From 2017 to 2019, 151 newly diagnosed CRC patients in Greece were enrolled. MSI molecular analysis was carried out, followed by next-generation sequencing (NGS) germline testing in MSI patients without sporadic alterations to identify LS. Results: Of the patients, 76 (51.7%) exhibited MMR deficiency, with their tumors more likely to have mucinous histology ( Conclusions: These findings underscore the critical need for CRC-adapted preventive oncology and support the implementation of a national LS screening program in Greece, aligned with international guidelines.
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