Timely identification of hereditary colorectal cancer syndromes might prevent early death due to cancer
Systematic analysis of all newly diagnosed colorectal cancer for molecular features of Lynch syndrome will improve the identification of the syndrome
Comprehensive analysis of the genes known to be associated with polyposis syndromes facilitates making an appropriate diagnosis
Classification of hereditary colorectal cancer syndromes according to the underlying gene defect enables targeted surveillance and treatment
Inclusion of the underlying gene defect in disease terminology and diagnosis ensures appropriate management
Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.
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The authors declare no competing financial interests.
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Vasen, H., Tomlinson, I. & Castells, A. Clinical management of hereditary colorectal cancer syndromes. Nat Rev Gastroenterol Hepatol 12, 88–97 (2015). https://doi.org/10.1038/nrgastro.2014.229
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