Literature DB >> 24161962

Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update.

Hiroyuki Aihara1, Nitin Kumar, Christopher C Thompson.   

Abstract

Familial adenomatous polyposis is characterized by the development of multiple (>100) colorectal adenomas throughout the colorectum. This disorder can be caused by a germline mutation in the adenomatous polyposis coli gene and can be diagnosed either clinically or genetically. After diagnosis with the condition, patients should undergo prophylactic proctocolectomy with a neoreservoir, usually an ileoanal pouch, at an appropriate time. Individuals with a family history of this disease who have not been diagnosed should be advised to attend genetic counseling and to enroll in appropriate clinical and genetic surveillance programs. Recent progress in endoscopic technology, including high-resolution endoscopy, capsule endoscopy, and double-balloon endoscopy, has made possible more detailed and wide-ranging investigation of the gastrointestinal tract. Although there has been limited evidence, further studies on these new endoscopic technologies might alter the surveillance strategies for familial adenomatous polyposis.

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Year:  2014        PMID: 24161962      PMCID: PMC5019104          DOI: 10.1097/MEG.0000000000000010

Source DB:  PubMed          Journal:  Eur J Gastroenterol Hepatol        ISSN: 0954-691X            Impact factor:   2.566


  92 in total

1.  Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Authors:  Y Miyoshi; H Ando; H Nagase; I Nishisho; A Horii; Y Miki; T Mori; J Utsunomiya; S Baba; G Petersen
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

2.  Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.

Authors:  S Aretz; D Stienen; S Uhlhaas; C Pagenstecher; E Mangold; R Caspari; P Propping; W Friedl
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 3.  Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Authors:  M H Nieuwenhuis; H F A Vasen
Journal:  Crit Rev Oncol Hematol       Date:  2006-10-24       Impact factor: 6.312

Review 4.  Hereditary benign and malignant lesions of the large bowel.

Authors:  J Wennstrom; E R Pierce; V A McKusick
Journal:  Cancer       Date:  1974-09       Impact factor: 6.860

5.  Nonpolypoid adenomas of the duodenum in patients with familial adenomatous polyposis (Gardner's syndrome).

Authors:  M Iida; K Aoyagi; Y Fujimura; T Matsumoto; K Hizawa; S Nakamura
Journal:  Gastrointest Endosc       Date:  1996-09       Impact factor: 9.427

6.  A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome).

Authors:  E I Traboulsi; S F Murphy; Z C de la Cruz; I H Maumenee; W R Green
Journal:  Am J Ophthalmol       Date:  1990-11-15       Impact factor: 5.258

7.  Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Authors:  O M Sieber; H Lamlum; M D Crabtree; A J Rowan; E Barclay; L Lipton; S Hodgson; H J W Thomas; K Neale; R K S Phillips; S M Farrington; M G Dunlop; H J Mueller; M L Bisgaard; S Bulow; P Fidalgo; C Albuquerque; M I Scarano; W Bodmer; I P M Tomlinson; K Heinimann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-26       Impact factor: 11.205

8.  Cardiovascular events associated with rofecoxib: final analysis of the APPROVe trial.

Authors:  John A Baron; Robert S Sandler; Robert S Bresalier; Angel Lanas; Dion G Morton; Robert Riddell; Erik R Iverson; David L Demets
Journal:  Lancet       Date:  2008-10-14       Impact factor: 79.321

Review 9.  Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.

Authors:  Koji Aoki; Makoto M Taketo
Journal:  J Cell Sci       Date:  2007-10-01       Impact factor: 5.285

10.  The role of chromoendoscopy in the surveillance of the duodenum of patients with familial adenomatous polyposis.

Authors:  Massimo Picasso; Rosangela Filiberti; Sabrina Blanchi; Massimo Conio
Journal:  Dig Dis Sci       Date:  2007-04-04       Impact factor: 3.487

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  12 in total

1.  An Unusual Case of Familial Adenomatous Polyposis Presenting with Gout and Jaundice.

Authors:  Anna K Lawless; Ravi Huilgol; Christopher J Young
Journal:  Cureus       Date:  2017-07-15

2.  Gastrointestinal Polyposis in Pediatric Patients.

Authors:  Suzanne P MacFarland; Kristin Zelley; Bryson W Katona; Benjamin J Wilkins; Garrett M Brodeur; Petar Mamula
Journal:  J Pediatr Gastroenterol Nutr       Date:  2019-09       Impact factor: 2.839

3.  Molecular Oncology in Management of Colorectal Cancer.

Authors:  Ramraj Nagendra Gupta Vemala; Sanjeev Vasudev Katti; Bhawna Sirohi; Divya Manikandan; Govind Nandakumar
Journal:  Indian J Surg Oncol       Date:  2021-03-16

Review 4.  The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.

Authors:  Maria Liz Leoz; Sabela Carballal; Leticia Moreira; Teresa Ocaña; Francesc Balaguer
Journal:  Appl Clin Genet       Date:  2015-04-16

5.  Isoperistaltic Jejunal Loop Interposition after Total Gastrectomy for Gastric Cancer in Patients with Familial Adenomatous Polyposis.

Authors:  Matteo Zuin; Francesco Celotto; Salvatore Pucciarelli; Emanuele Damiano Luca Urso
Journal:  J Gastric Cancer       Date:  2020-04-13       Impact factor: 3.720

6.  Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.

Authors:  Diana Marcela Mejía Granados; Marcella Bergamini de Baptista; Luciana Cardoso Bonadia; Carmen Silvia Bertuzzo; Carlos Eduardo Steiner
Journal:  Clin Cosmet Investig Dermatol       Date:  2020-01-07

7.  Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran

Authors:  Seyed Kazem Mirinezhad; Farideh Mousavi; Masood Baghri; Bita Sepehri; Ali Ghavidel; Morteza Ghojazadeh; Mohammad Hossein Somi
Journal:  Asian Pac J Cancer Prev       Date:  2018-01-27

8.  A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Authors:  Minghui Pang; Yijun Liu; Xiaolin Hou; Jialiang Yang; Xuelai He; Nengyi Hou; Peixi Liu; Luo Liang; Junwen Fu; Kang Wang; Zimeng Ye; Bo Gong
Journal:  Mol Med Rep       Date:  2018-06-05       Impact factor: 2.952

9.  An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.

Authors:  Qitao Zhan; Liya Wang; Xiangrong Xu; Yan Sun; Lejun Li; Xuchen Qi; Feng Chen; Xiaoming Wei; Michael L Raff; Ping Yu; Fan Jin
Journal:  Front Genet       Date:  2020-03-04       Impact factor: 4.599

10.  Analysis of expression levels of markers associated with tumor proliferation and angiogenesis in familial adenomatous polyposis.

Authors:  Zhao Zhang; Dan Wang; Chen Xu; Yuwei Li; Yongjun Yu; Chao Chen; Mingsen Li; Xipeng Zhang
Journal:  Mol Genet Genomic Med       Date:  2020-10-27       Impact factor: 2.183

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