Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation

Human Molecular Genetics
R J ScottE R Maher

Abstract

Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), being represented in about 10% of patients. In addition to desmoid disease occurring in familial adenomatous polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290) kindreds where there is no evidence of FAP. Previously we have described a kindred with familial infiltrative fibromatosis (FIF) in which desmoid tumours were associated with nonpolyposis colorectal cancer. FAP is caused by mutations in the APC gene and various genotype-phenotype relationships have been defined including reports that colorectal polyposis is less severe with mutations 5' to codon 157 and that the risk of desmoid tumours is high in FAP patients with APC gene mutations between codons 1444 and 1598. There is relatively little information on the phenotype of APC gene mutations 3' to codon 1598; however, one large family has been reported with a mutation at codon 1987 which presents with a highly variable phenotype which includes desmoid disease. We screened our original FIF kindred and three further families with a similar phenotype for mutations in the APC gene...Continue Reading

Citations

Mar 10, 2001·International Journal of Cancer. Journal International Du Cancer·L BertarioUNKNOWN Hereditary Colorectal Tumours Registry
May 17, 2000·Diseases of the Colon and Rectum·S K ClarkR K Phillips
Mar 25, 2000·Diseases of the Colon and Rectum·C SoraviaZ Cohen
Sep 26, 2006·Familial Cancer·N Julian H Sturt, Susan K Clark
Dec 4, 2003·Gastrointestinal Endoscopy·Marcia Cruz-Correa, Francis M Giardiello
Dec 17, 2009·Clinics in Colon and Rectal Surgery·C Neal Ellis
Aug 1, 2005·Clinics in Colon and Rectal Surgery·C Neal Ellis
Feb 21, 1998·Nucleic Acids Research·P Laurent-PuigT Soussi
Oct 3, 2002·The American Journal of Surgical Pathology·Elizabeth MontgomerySusan C Abraham
Apr 2, 1998·Journal of Pediatric Gastroenterology and Nutrition·M G Martín
Jul 5, 2006·Journal of Pediatric Gastroenterology and Nutrition·Carol A Durno, Steven Gallinger
Apr 16, 2005·The American Journal of Surgical Pathology·Baishali BhattacharyaElizabeth Montgomery
Apr 12, 2007·Journal of Clinical Gastroenterology·Laurent BenoitJean Cuisenier
Mar 15, 2001·Gut·R J ScottUNKNOWN Hunter Family Cancer Service
Mar 30, 2006·World Journal of Surgical Oncology·Andreas HatzimarkouPanagiotis Skandalakis
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Waltraut Friedl, Stefan Aretz
Mar 23, 2012·Journal of Cytology·Kavita KohliShyama Jain
Jan 19, 2006·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Angela D LevyLeslie H Sobin
Feb 20, 2014·European Journal of Human Genetics : EJHG·Abdulla IbrahimJonathan N Berg
Aug 26, 2014·Cancer Research and Treatment : Official Journal of Korean Cancer Association·Won Beom JungJin Cheon Kim
Mar 11, 1999·Current Opinion in Genetics & Development·P Polakis
Jun 2, 2010·Cancer Genetics and Cytogenetics·Yun Ha JangWon-Ki Min
Sep 8, 2009·Clinical Oncology : a Journal of the Royal College of Radiologists·K Thway
Aug 30, 2008·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·D J LipsA Hennipman
Oct 6, 2007·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Carol DurnoSteven Gallinger
Oct 27, 2006·Critical Reviews in Oncology/hematology·M H Nieuwenhuis, H F A Vasen
Jan 28, 2006·The Journal of Pathology·M BacacI Stamenkovic
Feb 27, 2010·Cancer·Veridiana Pires de CamargoRobert G Maki
Jun 15, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Wolfram GoesslingLeonard I Zon
Mar 30, 2017·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Shivaani KummarAlice P Chen

❮ 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.