Abstract
Lynch syndrome (LS) arises from germline mutations that lead to defective functioning of the DNA mismatch repair (MMR) system. It is the most common cause of inherited colorectal cancer (CRC), and predisposes individuals to significantly elevated risks for extracolonic cancers. A sensitive and accurate diagnostic approach will enable proactive management of the proband and at-risk relatives in order to minimize their cancer burden. Comprehensive clinical genetics care should include personalized and tailored multidisciplinary oncologic care, with consideration for the extent of surgical resection, the choice of systemic agents, and the use of radiation. Preventive strategies including lifelong multi-organ surveillance, testing of family members, prophylactic-intent surgery and chemoprevention should be considered. In this review, we aim to provide an update on the diagnostic approach to LS, and to summarize key components of comprehensive clinical genetics care, through an examination of existing data and guidelines from Asian and from Western perspectives.
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