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Prediction Models for Lynch Syndrome

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Hereditary Colorectal Cancer

Abstract

Numerous strategies are currently available for the identification of individuals and families with Lynch syndrome that have evolved considerably over time. Prediction models for Lynch syndrome can quantify an individual’s risk of carrying a germline mismatch repair gene mutation and help clinicians decide who should be referred for further genetic risk assessment and/or genetic testing. In this chapter, we review the main prediction models developed for the identification of individuals at risk for Lynch syndrome with a focus on their specific features, performance measures as assessed by several validation studies, comparison with other clinical and molecular strategies for the diagnosis of Lynch syndrome, and their implementation and potential uses in clinical practice. We also introduce a new prediction model that provides prospective cancer risk estimates for individuals with MMR gene mutations based on comprehensive literature reviews. Lastly, we address the future considerations related to the use of clinical prediction models, including the impact of next-generation DNA sequencing technologies and the increased uptake of simultaneous testing of multiple genes (multigene panel testing) associated with inherited cancer susceptibility.

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Author information

Authors and Affiliations

  1. Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA

    Fay Kastrinos

  2. Division of Digestive and Liver Diseases, Columbia University Medical Center, New York, NY, USA

    Fay Kastrinos

  3. Department of Medicine, Division of Gastrointestinal and Liver Disease, University of Southern California, Los Angeles, CA, USA

    Gregory Idos

  4. Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA

    Gregory Idos

  5. Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, USA

    Giovanni Parmigiani

  6. Department of Biostatistics, Harvard Medical School, Boston, MA, USA

    Giovanni Parmigiani

Authors
  1. Fay Kastrinos
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  2. Gregory Idos
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  3. Giovanni Parmigiani
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Corresponding author

Correspondence to Fay Kastrinos .

Editor information

Editors and Affiliations

  1. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain

    Laura Valle

  2. University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, California, USA

    Stephen B. Gruber

  3. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain

    Gabriel Capellá

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Kastrinos, F., Idos, G., Parmigiani, G. (2018). Prediction Models for Lynch Syndrome. In: Valle, L., Gruber, S., Capellá, G. (eds) Hereditary Colorectal Cancer. Springer, Cham. https://doi.org/10.1007/978-3-319-74259-5_19

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