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Management of Familial Adenomatous Polyposis

  • Genetics in Gastroenterology Practice (BW Katona, Section Editor)
  • Published:
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Abstract

Purpose of review

This paper reviews important aspects in the management of individuals with familial adenomatous polyposis (FAP).

Recent findings

Newly discovered germline pathogenic variants (PVs) beyond APC are a rare cause of adenomatous polyposis. The decreasing cost of multi-gene panel testing (MGPT) has broadened the use of commercial panels to enhance the genetic diagnosis of adenomatous polyposis in families where the causative germline PV in APC is not known. We elucidate emerging risks of cancer in FAP particularly gastric cancer and provide best practices to surveillance and cancer prevention in FAP, including dual therapy chemoprevention and trials utilizing novel mechanisms.

Summary

Genetic testing is indicated in individuals with ≥ 10 lifetime adenomas. FAP and MutYH-associated polyposis (MAP) will be the most common germline causes of colorectal adenomatous polyposis. In FAP, upper endoscopy is indicated for surveillance of gastric polyposis and gastric cancer in addition to duodenal polyposis. Novel agents for chemoprevention have been shown to be effective and considered for selective use in patients with FAP.

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Authors and Affiliations

  1. Department of Gastroenterology & Hepatology, Virginia Mason, Seattle, WA, USA

    Gautam Mankaney MD

  2. Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Desk A 30, 9500 Euclid Avenue, Cleveland, OH, USA

    Carole Macaron MD & Carol A. Burke MD

Authors
  1. Gautam Mankaney MD
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  2. Carole Macaron MD
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  3. Carol A. Burke MD
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Corresponding author

Correspondence to Gautam Mankaney MD.

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Conflict of interest

GM is a co-investigator with trials that utilize guselkumab and erlotinib. CAB has been a co-investigator or lead investigator for multiple trials, active ones which include guselkumab, erlotinib, and sulindac/DMFO. CM declares that she has no conflicts of interest.

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Mankaney, G., Macaron, C. & Burke, C.A. Management of Familial Adenomatous Polyposis. Curr Treat Options Gastro 19, 198–210 (2021). https://doi.org/10.1007/s11938-020-00324-9

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