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. 2020 Dec;115(12):2095-2097.
doi: 10.14309/ajg.0000000000000935.

Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome

Bryson W Katona  1 , Jacquelyn Powers  2 , Danielle B McKenna  2 , Jessica M Long  2 , Anh N Le  2 , Ryan Hausler  2 , Kristin Zelley  3 , Sarah Jennings  3 , Susan M Domchek  2 , Katherine L Nathanson  4   5 , Suzanne P MacFarland  3 , Kara N Maxwell  2   5
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Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome

Bryson W Katona et al. Am J Gastroenterol. 2020 Dec.

Abstract

Introduction: To assess the upper gastrointestinal (UGI) cancer risk and surveillance outcomes in Li-Fraumeni syndrome (LFS).

Methods: Analysis of the International Agency for Research on Cancer database and a single-center adult LFS cohort.

Results: UGI cancer was present in 7.2% of families and 3.9% of individuals with a pathogenic/likely pathogenic TP53 mutation in International Agency for Research on Cancer; 29% occurred before age 30. Our institutional cohort had 35 individuals (31% of the LFS cohort) with 48 cumulative upper endoscopies; 3 (8.5%) individuals had concerning UGI findings.

Discussion: UGI cancer is observed in LFS. Upper endoscopy should be part of a comprehensive LFS surveillance program.

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Conflict of interest statement

CONFLICTS OF INTEREST

Potential competing interests: B.W.K.: consulting (Exact Sciences) and travel (Janssen). S.M.D.: honoraria (AstraZeneca, Clovis, and Bristol-Myers Squibb).

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