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DNA Alterations in Lynch Syndrome pp 47–62Cite as

New Insights into Lynch Syndrome Diagnosis

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Abstract

Colorectal cancer (CRC) is the third most common cancer worldwide. Lynch syndrome accounts for 1–3 % of patients developing colorectal cancer. This autosomal dominant disorder is caused by germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. A mutation in one of these genes is characterised by the development of CRC and various other associated cancers at an early age. The diagnosis of Lynch syndrome has evolved over the last two decades to include family history, tumour histopathological characteristics, immunohistochemistry, testing for microsatellite instability as well as germline genetic testing as modalities for making the diagnosis. By identifying families and individuals with Lynch syndrome, individuals can be enrolled in focussed screening programmes that have been shown to decrease mortality from colorectal cancer. In this chapter we define the terms “HNPCC”, “Lynch syndrome” and “Familial colorectal cancer syndrome X” and discuss the different diagnostic modalities. We propose a logical and cost-effective algorithm to diagnose Lynch syndrome, by appropriately using all the diagnostic modalities in the at-risk individual.

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Authors and Affiliations

  1. Colorectal Unit, Department of Surgery, Groote Schuur Hospital and the University of Cape Town, Cape Town, South Africa

    Emile Coetzee, Ursula Algar & Paul Goldberg

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  1. Emile Coetzee
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  2. Ursula Algar
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  3. Paul Goldberg
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Correspondence to Paul Goldberg .

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  1. , Laboratory for Molecular Biology, National Institute of Chemistry, Hajdrihova 19, Ljubljana, SI-1001, Slovenia

    Matjaž Vogelsang

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Coetzee, E., Algar, U., Goldberg, P. (2013). New Insights into Lynch Syndrome Diagnosis. In: Vogelsang, M. (eds) DNA Alterations in Lynch Syndrome. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-6597-9_3

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