Literature DB >> 27617147

Familial Adenomatous Polyposis.

Alexia Waller1, Sarah Findeis2, Michael J Lee3.   

Abstract

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed.

Entities:  

Keywords:  Gardner syndrome; Turcot syndrome; familial adenomatous polyposis

Year:  2016        PMID： 27617147      PMCID： PMC4918699          DOI： 10.1055/s-0036-1579760

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  48 in total

1.  Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.

Authors:  E J GARDNER; R C RICHARDS
Journal:  Am J Hum Genet       Date:  1953-06       Impact factor: 11.025

Review 2.  Congenital hypertrophy of retinal pigment epithelium: a clinico-pathological case report.

Authors:  M A Parsons; I G Rennie; P A Rundle; S Dhingra; H Mudhar; A D Singh
Journal:  Br J Ophthalmol       Date:  2005-07       Impact factor: 4.638

Review 3.  Hereditary colorectal cancer.

Authors:  H T Lynch; T Smyrk; P Watson; S J Lanspa; B M Boman; P M Lynch; J F Lynch; J Cavalieri
Journal:  Semin Oncol       Date:  1991-08       Impact factor: 4.929

4.  Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.

Authors:  A Romania; Z N Zakov; E McGannon; T Schroeder; F Heyen; D G Jagelman
Journal:  Ophthalmology       Date:  1989-06       Impact factor: 12.079

5.  Desmoid tumours complicating familial adenomatous polyposis.

Authors:  S K Clark; K F Neale; J C Landgrebe; R K Phillips
Journal:  Br J Surg       Date:  1999-09       Impact factor: 6.939

6.  Mortality in patients with familial adenomatous polyposis.

Authors:  M L Arvanitis; D G Jagelman; V W Fazio; I C Lavery; E McGannon
Journal:  Dis Colon Rectum       Date:  1990-08       Impact factor: 4.585

7.  Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis.

Authors:  T T Wu; S Kornacki; A Rashid; J H Yardley; S R Hamilton
Journal:  Am J Surg Pathol       Date:  1998-03       Impact factor: 6.394

8.  Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis.

Authors:  Thomas M Attard; Pierre Giglio; Sireesha Koppula; Carrie Snyder; Henry T Lynch
Journal:  Cancer       Date:  2007-02-15       Impact factor: 6.860

9.  Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis.

Authors:  I Ruhswurm; M Zehetmayer; C Dejaco; B Wolf; J Karner-Hanusch
Journal:  Am J Ophthalmol       Date:  1998-05       Impact factor: 5.258

Review 10.  Benign osteoma with Gardner syndrome: review of the literature and report of a case.

Authors:  Ufuk Bilkay; Ozgur Erdem; Cuneyt Ozek; Evren Helvaci; Kamil Kilic; Yesim Ertan; Tahir Gurler
Journal:  J Craniofac Surg       Date:  2004-05       Impact factor: 1.046
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  14 in total

Review 1.  Adenomas - Genetic factors in colorectal cancer prevention.

Authors:  Kycler Witold; Kubiak Anna; Trojanowski Maciej; Janowski Jakub
Journal:  Rep Pract Oncol Radiother       Date:  2018-02-09

2.  Colo-colonic intussusception as the first manifestation of familial adenomatous polyposis - index case.

Authors:  Pedro Gil Oliveira; Cristina Ferreira; Rui Almeida; Luís Curvo-Semedo
Journal:  BMJ Case Rep       Date:  2020-02-10

3.  Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum.

Authors:  Jingan Zhou; Preeti Singh; Kanhua Yin; Jin Wang; Yujia Bao; Menghua Wu; Kush Pathak; Sophia K McKinley; Danielle Braun; Carrie C Lubitz; Kevin S Hughes
Journal:  Ann Surg Oncol       Date:  2021-03-03       Impact factor: 5.344

Review 4.  Tumor suppressor genes in familial adenomatous polyposis.

Authors:  Nahal Eshghifar; Naser Farrokhi; Tahereh Naji; Mohammadreza Zali
Journal:  Gastroenterol Hepatol Bed Bench       Date:  2017

5.  APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation.

Authors:  Giovanna D'Elia; Gemma Caliendo; Amelia Casamassimi; Michele Cioffi; Anna Maria Molinari; Maria Teresa Vietri
Journal:  Genes (Basel)       Date:  2018-06-27       Impact factor: 4.096

6.  Limited Proteolysis of Cyclooxygenase-2 Enhances Cell Proliferation.

Authors:  Esraa Saadi; Rapita Sood; Ido Dromi; Ranin Srouji; Ossama Abu Hatoum; Sharon Tal; Liza Barki-Harrington
Journal:  Int J Mol Sci       Date:  2020-04-30       Impact factor: 5.923

7.  Hormone therapy use and breast tissue DNA methylation: analysis of epigenome wide data from the normal breast study.

Authors:  Sophia Harlid; Zongli Xu; Erin Kirk; Lauren E Wilson; Melissa A Troester; Jack A Taylor
Journal:  Epigenetics       Date:  2019-03-01       Impact factor: 4.528

Review 8.  Linking Gut Microbiota to Colorectal Cancer.

Authors:  Hans Raskov; Jakob Burcharth; Hans-Christian Pommergaard
Journal:  J Cancer       Date:  2017-09-20       Impact factor: 4.207

Review 9.  Hereditary pancreatic cancer: related syndromes and clinical perspective.

Authors:  Sergio Carrera; Aintzane Sancho; Eider Azkona; Josune Azkuna; Guillermo Lopez-Vivanco
Journal:  Hered Cancer Clin Pract       Date:  2017-06-28       Impact factor: 2.857

10.  A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.

Authors:  Snigdha Majumder; Rakshit Shah; Jisha Elias; Yogesh Mistry; Karunakaran Coral; Priyanka Shah; Anand Kumar Maurya; Bharti Mittal; Jason K D'Silva; Sakthivel Murugan; Lakshmi Mahadevan; Rekha Sathian; V L Ramprasad; Papia Chakraborty; Ravi Gupta; Amitabha Chaudhuri; Arati Khanna-Gupta
Journal:  PLoS One       Date:  2018-09-26       Impact factor: 3.240
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