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Hyperplastic Polyposis Syndrome: Colorectal Cancer Predisposition

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Hereditary Colorectal Cancer

Part of the book series: M.D. Anderson Solid Tumor Oncology Series ((MDA,volume 5))

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Abstract

A major paradigm shift in the way we view the initiation and progression of colorectal cancer (CRC) has occurred within the last decade. For many years, the malignant transformation of adenomatous polyps (adenomas) was considered to be the only route to cancer in the human colon. The other common polyp type, with serrated but non-dysplastic features (also referred to as hyperplastic or metaplastic polyps) was seen as innocuous. However, with the recognition at a molecular level that some serrated polyps may act as the precursor lesions for CRCs, the “serrated pathway” came of age, and has provided an alternative mechanism for the development of CRC, existing alongside the traditional adenoma–carcinoma sequence. Molecular evidence for the malignant transformation of serrated polyps was first observed in a colorectal cancer patient with a condition called hyperplastic polyposis syndrome (HPS), where multiple serrated polyps are present throughout the colon. Since this pivotal event, HPS has served as a molecular model for the serrated pathway of CRC development, analogous to that provided by FAP for the sporadic adenoma–carcinoma sequence. In this chapter, the evidence that individuals with HPS have a genetic predisposition, which increases their risk of developing CRC, will be examined. Though the genetic lesion underlying HPS is yet to be identified, its inclusion as a genetic CRC predisposition is a concept whose time has come.

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Young, J. (2010). Hyperplastic Polyposis Syndrome: Colorectal Cancer Predisposition. In: Rodriguez-Bigas, M., Cutait, R., Lynch, P., Tomlinson, I., Vasen, H. (eds) Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-6603-2_6

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