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Hereditary Gastrointestinal

Hereditary gastrointestinal polyposis syndromes were traditionally separated into hamartomatous and adenomatous types. Recently, a new type of polyposis syndrome has been defined and is associated with various types of serrated polyps. Almost all of these syndromes have an increased risk of colorectal cancer and most are associated with an increased risk of a variety of extracolonic tumors, both benign and malignant. This is a rapidly evolving field with some entities being redefined, some entities having their genetic basis unraveled, and new entities emerging among the polyposis syndromes. We will subsequently review the major hereditary polyposis syndromes and provide an update on both the current nomenclature and the current concepts in pathogenesis. . FAP is associated with an essentially 100% lifetime risk of colorectal carcinoma at an average age of 39 years . The age of polyposis diagnosis is variable but adenomas are usually present by the second decade of life and the majority of patients have developed polyps by the fourth decade of life. FAP and the variants have a range of different extracolonic manifestations but all have adenomatous polyps within the gastrointestinal tract.
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Last date updated on September, 2024

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