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Clinical Features of Lynch Syndrome

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Lynch Syndrome

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Abstract

Lynch syndrome (LS) is one of the most common genetic cancer syndromes and accounts for 1–4% of all colorectal cancer cases. It is estimated that more than 100,000 individuals in Japan carry LS variants. This autosomal dominant disease is mainly caused by germline variants of mismatch repair genes (MSH2, MLH1, MSH6, PMS2) or EPCAM. Individuals with LS tend to develop with various types of tumors at a young age, such as colorectal cancer, endometrial cancer, and gastric cancer. The risk of developing LS-associated tumors may vary greatly depending on the population, gender of the carrier, and mismatch repair gene mutated. In this chapter, we discuss the clinical features of LS.

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  1. Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan

    Kohji Tanakaya

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  1. Specially Appointed Adviser, Cancer Treatment Center, Toyonaka Municipal Hospital, Osaka, Japan

    Naohiro Tomita

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Tanakaya, K. (2020). Clinical Features of Lynch Syndrome. In: Tomita, N. (eds) Lynch Syndrome. Springer, Singapore. https://doi.org/10.1007/978-981-15-6891-6_2

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