Desmoids and genotype in familial adenomatous polyposis

Diseases of the Colon and Rectum
James ChurchMatthew Kalady

Abstract

Desmoid disease can be a serious, life-threatening complication of familial adenomatous polyposis. The ability to predict patients at increased desmoid risk is important, but a convincing genotype-phenotype correlation for desmoid formation has not yet been described. The aim of this study is to assess the relationship between desmoid disease and genotype in patients with familial adenomatous polyposis. This is a cohort study. All patients with familial adenomatous polyposis and a documented pathogenic APC mutation in themselves or a first-degree relative were selected. The comparison of genotype and the presence, stage, and site of desmoid disease are the primary end points of this study. Three hundred twenty-three patients from 219 families were identified. Mutations spanned the length of the gene, from codon 213 to codon 2051. Desmoid disease was diagnosed in 77 patients from 68 families. Desmoid disease was found in 14.9% of patients with a mutation 5' of codon 400, 23.2% of patients with a mutation from codon 401 to 1400, and in 37.1% of those with a mutation 3' of 1400. All patients with 5' mutations had stage I or II abdominal desmoid disease, and all tumors were stable or shrinking. Twelve percent of patients who had de...Continue Reading

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Citations

Oct 17, 2015·Expert Review of Anticancer Therapy·Mushriq Al-JazraweBenjamin Alman
Mar 8, 2017·ANZ Journal of Surgery·Timothy J ChittleboroughJames Church
Mar 9, 2017·Familial Cancer·Sarah-Jane WaltonAndrew Latchford
Jan 26, 2018·Familial Cancer·Astrid Tenden StormorkenEli Marie Grindedal
Sep 14, 2018·Journal of Computer Assisted Tomography·Dhakshinamoorthy GaneshanRaghunandan Vikram
Jul 15, 2020·Cancers·Dorian Yarih Garcia-OrtegaJorge Luis Martínez-Tlahuel
Feb 29, 2020·World Journal of Clinical Cases·Huai-Jie CaiBin Huang
Nov 21, 2020·Revista Española De Enfermedades Digestivas : Organo Oficial De La Sociedad Española De Patología Digestiva·Junfeng ZhouXiaoliu Shi
Apr 29, 2020·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·Luca ImprotaSylvie Bonvalot
Jun 30, 2021·International Journal of Clinical Oncology·Naohiro TomitaUNKNOWN Japanese Society for Cancer of the Colon, Rectum
Dec 10, 2019·Bulletin du cancer·Sylvie BonvalotToufik Bouhadiba

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