Literature DB >> 18333267

Variation of a variation: case report of attenuated familial adenomatous polyposis.

P Bhatnagar1, H Tetzlaff, L Izatt, J Devlin, N D Heaton.   

Abstract

BACKGROUND: First described in 1988, attenuated familial adenomatous polyposis (AFAP) is a rare autosomal dominant precancerous condition of the gastrointestinal tract. Few reports have described adenocarcinomatous change in the gastroduodenal region thus far. CASE OUTLINE: We report a case of AFAP presenting with extensive gastric polyposis and ampullary adenocarcinoma in absence of a positive family history of gastrointestinal cancer and a novel mutation.

Entities:  

Year:  2006        PMID： 18333267      PMCID： PMC2131414          DOI： 10.1080/13651820410016624

Source DB:  PubMed          Journal:  HPB (Oxford)        ISSN： 1365-182X            Impact factor:   3.647


  9 in total

1.  Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-2003. A 45-year-old woman with a family history of colonic polyps and cancer.

Authors:  Daniel C Chung; Mari Mino; Kristen M Shannon
Journal:  N Engl J Med       Date:  2003-10-30       Impact factor: 91.245

2.  AFAP: variety is the spice of life.

Authors:  H T Lynch; P Watson
Journal:  Gut       Date:  1998-10       Impact factor: 23.059

3.  Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis.

Authors:  W T Hofgärtner; M Thorp; M W Ramus; G Delorefice; W Y Chey; C K Ryan; G W Takahashi; J R Lobitz
Journal:  Am J Gastroenterol       Date:  1999-08       Impact factor: 10.864

Review 4.  Attenuated familial adenomatous polyposis: an evolving and poorly understood entity.

Authors:  Gerald S Hernegger; Harvey G Moore; Jose G Guillem
Journal:  Dis Colon Rectum       Date:  2002-01       Impact factor: 4.585

5.  Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.

Authors:  L K Su; C J Barnes; W Yao; Y Qi; P M Lynch; G Steinbach
Journal:  Am J Hum Genet       Date:  2000-08-03       Impact factor: 11.025

Review 6.  Hereditary colorectal cancer: risk assessment and management.

Authors:  H Hampel; P Peltomaki
Journal:  Clin Genet       Date:  2000-08       Impact factor: 4.438

7.  Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Authors:  Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D Gareth Evans; Ian Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle
Journal:  Lancet       Date:  2003-07-05       Impact factor: 79.321

8.  Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma.

Authors:  J D Trimbath; C Griffin; K Romans; F M Giardiello
Journal:  Gut       Date:  2003-06       Impact factor: 23.059

9.  Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene.

Authors:  C Kraus; K Günther; A Vogler; W Hohenberger; R A Pfeiffer; W G Ballhausen
Journal:  Mol Cell Probes       Date:  1998-06       Impact factor: 2.365
  9 in total
  1 in total

1.  A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases.

Authors:  Jaehoon Jahng; Sang Jin Yoon; Hyojin Park
Journal:  Gut Liver       Date:  2013-01-11       Impact factor: 4.519
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.