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
References
Aug 9, 1991·Science·K W KinzlerD McKechnie
Aug 9, 1991·Science·I NishishoP Hedge
Mar 1, 1995·Human Molecular Genetics·R CaspariG Thomas
Mar 1, 1994·Gut·A K GurbuzS R Hamilton
Dec 1, 1996·Human Molecular Genetics·R J ScottE R Maher
Apr 27, 2000·Clinical Genetics·J CoutureB Bapat
Mar 10, 2001·International Journal of Cancer. Journal International Du Cancer·L BertarioUNKNOWN Hereditary Colorectal Tumours Registry
Mar 15, 2001·Gut·W FriedlP Propping
Mar 3, 2004·Diseases of the Colon and Rectum·J E HartleyV W Fazio
Nov 16, 2004·Gut·N J H SturtR K S Phillips
Nov 4, 2006·Diseases of the Colon and Rectum·Poh-Koon KohKong-Weng Eu
Jun 15, 2007·Pathology·Yang JilongZhu Xiongzeng
Feb 2, 2008·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Marry H NieuwenhuisHans F A Vasen
Mar 7, 2008·Diseases of the Colon and Rectum·James ChurchElodie Elayi
Jun 27, 2008·The British Journal of Surgery·J H LefevreE Tiret
Dec 8, 2009·Diseases of the Colon and Rectum·Elodie ElayiJames Church
Mar 31, 2010·Techniques in Coloproctology·A SinhaS K Clark
Jun 10, 2010·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·A SinhaS K Clark
Sep 10, 2011·Diseases of the Colon and Rectum·Marry H NieuwenhuisHans F A Vasen
Feb 11, 2012·Annals of Surgery·Cristiano QuintiniJames M Church
Citations
Oct 17, 2015·Expert Review of Anticancer Therapy·Mushriq Al-JazraweBenjamin Alman
Feb 13, 2016·Familial Cancer·James M Church
Aug 16, 2015·Familial Cancer·Daniel Robert QuastGabriela Möslein
Jun 6, 2016·International Journal of Surgery·Christian MuellerNikolaos Vassos
Mar 8, 2017·ANZ Journal of Surgery·Timothy J ChittleboroughJames Church
Mar 9, 2017·Familial Cancer·Sarah-Jane WaltonAndrew Latchford
Mar 1, 2018·Familial Cancer·S J WaltonE Havranek
Jan 26, 2018·Familial Cancer·Astrid Tenden StormorkenEli Marie Grindedal
Sep 14, 2018·Journal of Computer Assisted Tomography·Dhakshinamoorthy GaneshanRaghunandan Vikram
Aug 16, 2017·Acta Oncologica·Joanna Vitfell-RasmussenJulie Gehl
Jul 15, 2020·Cancers·Dorian Yarih Garcia-OrtegaJorge Luis Martínez-Tlahuel
Feb 29, 2020·World Journal of Clinical Cases·Huai-Jie CaiBin Huang
Feb 7, 2021·Familial Cancer·E CojocaruT P McVeigh
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
Nov 20, 2021·Medicine·Ailing LiuTao Mao