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Lynch syndrome: the patients perspective

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Abstract

People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted from the patients’ perspective. Both authors are affected by Lynch syndrome and are active in Lynch patient organizations. The goal of this review is to assist heath care providers in the improvement of care for individuals who share our disorder. Institutional and/or national guidelines that should lead to the identification of Lynch patients have been developed in many countries. However, adherence to these guidelines is poor and the consequence is severe underdiagnosis of Lynch syndrome. An important task of patient organizations is therefore to increase awareness of Lynch syndrome among the general public and health care providers. Because diagnosis of Lynch syndrome based on family history is difficult, the use of molecular and or histological techniques that permit unequivocal diagnosis should be more aggressively promoted. Since Lynch syndrome encompasses a broad spectrum of cancers, a multidisciplinary treatment and screening protocol for all Lynch patients is necessary. Lynch patients must be seen by a team of specialists that are knowledgeable in the various manifestations of Lynch syndrome. Because tumors with mismatch repair deficiency have specific properties, identification of effective chemotherapy regimens, specifically targeted to patients with deficiencies in DNA repair mechanisms, must be developed. The high lifetime risk of developing cancer in Lynch patients warrants lifestyle advice and research into chemopreventive measures that reduce the risk of cancer in this vulnerable group. Implementation of these recommendations will result in greatly improved quality of life for people affected with Lynch syndrome, it is therefore important that health care providers and patient organizations work together to achieve these goals.

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Authors and Affiliations

  1. Vereniging HNPCC-Lynch, p/a NFK, Postbus 8152, 3503 RD, Utrecht, The Netherlands

    Jurgen Seppen

  2. Lynch Syndrome International, Vacaville, CA, USA

    Linda Bruzzone

  3. Academic Medical Center, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands

    Jurgen Seppen

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  1. Jurgen Seppen
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  2. Linda Bruzzone
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Correspondence to Jurgen Seppen.

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Seppen, J., Bruzzone, L. Lynch syndrome: the patients perspective. Familial Cancer 12, 341–345 (2013). https://doi.org/10.1007/s10689-013-9630-2

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