APC genotype, polyp number, and surgical options in familial adenomatous polyposis

Annals of Surgery
J S WuJames M Church

Abstract

This study was performed to examine the relation between phenotypic expression in patients with familial adenomatous polyposis (FAP) and the site of mutations in the APC (adenomatous polyposis coli) gene. The ability of APC mutations to predict surgical outcome was also investigated. Germline mutations in the APC gene cause FAP and can now be identified by direct mutational analysis. Such an analysis can identify affected persons for close surveillance and spare unaffected persons. Phenotypic expression varies within and among FAP kindreds, but certain mutations have been associated with severe disease. Patients with severe polyposis are frequently offered total proctocolectomy rather than colectomy and ileorectal anastomosis out of concern for increased rectal cancer risk. Mutation analysis may offer a more rational basis for these decisions. The postsurgical courses of 58 patients from 19 FAP kindreds with identified APC gene mutations were reviewed. APC gene mutations were identified by analysis of leukocyte DNA using single-strand conformational analysis and DNA sequencing. FAP severity was defined according to the number of polyps in the colon at the time of resection (< 1000, mild; > 1000, severe). Operations included sub...Continue Reading

References

Aug 9, 1991·Science·K W KinzlerD McKechnie
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jul 1, 1971·Cancer·C G MoertelM A Adson
Apr 1, 1970·Archives of Surgery·C W McLaughlin, J D Coe
Mar 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·S MunemitsuP Polakis
Apr 1, 1996·Gastroenterology·H S DebinskiR K Phillips

❮ Previous
Next ❯

Citations

Apr 6, 2001·Diseases of the Colon and Rectum·M W Thompson-FawcettR S Mcleod
Oct 5, 2001·Diseases of the Colon and Rectum·J ChurchB Clark
May 1, 1999·Diseases of the Colon and Rectum·T BerkS Gallinger
Dec 3, 2005·Der Chirurg; Zeitschrift für alle Gebiete der operativen Medizen·M Kadmon
Jul 19, 2011·International Journal of Colorectal Disease·Siraj G RajaratnamNicola S Fearnhead
Feb 5, 2005·Diseases of the Colon and Rectum·Mustafa OncelVictor W Fazio
Feb 19, 2005·Diseases of the Colon and Rectum·Berrin TuncaMaurizio Ponz de Leon
Jul 20, 2005·Bulletin of Experimental Biology and Medicine·T A MuzaffarovaA V Karpukhin
Sep 4, 2008·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·Fabio Guilherme CamposIvan Cecconello
May 22, 2007·Current Gastroenterology Reports·Steven H Erdman
Oct 26, 2005·Annales de chirurgie·G GodlewskiM Prudhomme
Feb 13, 2003·Cancer Genetics and Cytogenetics·M MihalatosG Nasioulas
Feb 3, 2000·Journal of the American College of Surgeons·P R Fleshner
Apr 3, 2002·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·DeLeonM Ponz
Dec 17, 2009·Clinics in Colon and Rectal Surgery·Daniel A AnayaMiguel A Rodriguez-Bigas
Oct 7, 2006·Current Opinion in Gastroenterology·R L Shattuck-Brandt, R N DuBois
Jul 5, 2006·Journal of Pediatric Gastroenterology and Nutrition·Carol A Durno, Steven Gallinger
Jan 29, 2010·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·A L KnudsenUNKNOWN AFAP Study Group
Feb 11, 2000·Annals of the New York Academy of Sciences·M M Bertagnolli
Apr 9, 2013·Orphanet Journal of Rare Diseases·Giovana Tardin TorrezanDirce Maria Carraro
Sep 23, 2006·Annals of Surgical Oncology·José G GuillemKenneth Offit
Jan 27, 2009·Annals of Surgical Oncology·Jérémie H LefevreEmmanuel Tiret
Feb 4, 2010·Ghana Medical Journal·O B Alese, D O Irabor
Jul 10, 2008·Annals of Surgical Oncology·Emma J GroenAndré P van Beek
May 17, 2013·Familial Cancer·Jennifer Liang, James M Church
Oct 5, 2010·Surgical Oncology Clinics of North America·Emily SteinhagenJosé G Guillem
Oct 2, 2009·Surgical Oncology Clinics of North America·Kerrington D Smith, Miguel A Rodriguez-Bigas
Feb 24, 2009·Gastroenterología y hepatología·María Dolores Giráldez Jiménez
Apr 3, 2009·Gastroentérologie Clinique Et Biologique·E SamahaC Cellier
Dec 8, 2007·Surgical Oncology·F Cetta, A Dhamo
Jun 5, 2007·Best Practice & Research. Clinical Gastroenterology·Karsten SchulmannWolff Schmiegel
Mar 21, 2007·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Mary H NieuwenhuisHans F A Vasen
Jan 4, 2006·Surgical Oncology Clinics of North America·Miguel A Rodriguez-BigasJohn M Skibber
Oct 27, 2006·Critical Reviews in Oncology/hematology·M H Nieuwenhuis, H F A Vasen
Aug 18, 2012·Asia-Pacific Journal of Clinical Oncology·Zhongshu YanHaiping Pei
Jan 18, 2006·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Sarita Agarwal, Nikhil Moorchung
Dec 16, 2003·Molecular Cancer·Satya Narayan, Deodutta Roy

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Related Papers

Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland
K F L DoumaH F Vasen
Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland
D BocaleD F Altomare
Annals of Surgical Oncology
Jérémie H LefevreEmmanuel Tiret
© 2021 Meta ULC. All rights reserved