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Screening for Lynch Syndrome

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Lynch Syndrome

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Abstract

To date, various testings to screen for Lynch syndrome have been proposed. Classically, Amsterdam criteria I/II and Bethesda guideline were developed as clinical screening testing using family history and cancer history. Since these screening testings do not detect all colorectal cancer with microsatellite instability, the universal tumor screening for Lynch syndrome using microsatellite instability testing or immunohistochemistry of mismatch repair proteins in all colorectal cancer and endometrial cancer is recommended. The effectiveness of immunohistochemical analysis of the mismatch repair proteins is similar to that of microsatellite instability; however, immunohistochemistry is more readily available and helps to direct gene testing. The universal genetic testing is reported from some groups; however, it is still premature to generalize the universal genetic testing as a screening test for Lynch syndrome.

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Authors and Affiliations

  1. Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan

    Tatsuro Yamaguchi

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  1. Tatsuro Yamaguchi
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Correspondence to Tatsuro Yamaguchi .

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

    Naohiro Tomita

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Yamaguchi, T. (2020). Screening for Lynch Syndrome. In: Tomita, N. (eds) Lynch Syndrome. Springer, Singapore. https://doi.org/10.1007/978-981-15-6891-6_8

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  • DOI: https://doi.org/10.1007/978-981-15-6891-6_8

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