Insights from the ItaLynch study for optimizing Lynch syndrome diagnosis

Alberto Puccini, MD, IRCCS Humanitas Research Hospital, Milan, Italy, discusses the diagnostic pathway for Lynch syndrome, a common hereditary cause of colorectal cancer due to germline mutations in DNA mismatch repair (MMR) genes. Despite international guidelines, Lynch syndrome remains largely undiagnosed globally. In some countries, MMR deficiency testing is now part of adjuvant and neoadjuvant care. Reflex testing for MLH1 loss, followed by BRAF and MLH1 hypermethylation tests, reduces genetic counselling needs and improves germline testing accuracy. This approach is being explored in the observational ItaLynch study, which aims to validate a new diagnostic algorithm for selecting patients for genetic testing. This interview took place during the 2024 American Society of Clinical Oncology (ASCO) Meeting in Chicago, IL.
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