Observational Study
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 21, 2015; 21(31): 9413-9419
Published online Aug 21, 2015. doi: 10.3748/wjg.v21.i31.9413
Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil
Caroline Aquino Moreira-Nunes, Diego di Felipe Ávila Alcântara, Sérgio Figueiredo Lima-Júnior, Sandro Roberto de Araújo Cavalléro, Juan Antonio Rey, Giovanny Rebouças Pinto, Paulo Pimentel de Assumpção, Rommel Rodriguez Burbano
Caroline Aquino Moreira-Nunes, Diego di Felipe Ávila Alcântara, Rommel Rodriguez Burbano, Biological Science Institute, Federal University of Pará, Belem 66075110, Brazil
Sérgio Figueiredo Lima-Júnior, Sandro Roberto de Araújo Cavalléro, Paulo Pimentel de Assumpção, Nucleus of Research in Oncology, Federal University of Pará, Belem 66073000, Brazil
Juan Antonio Rey, Molecular Neuro-oncogenetics Laboratory, Research Unit-Unidad de Investigación, Hospital Universitario La Paz, 28046 Madrid, Spain
Giovanny Rebouças Pinto, Genetics and Molecular Biology Laboratory, Federal University of Piaui, Parnaiba 64049-550, Brazil
Author contributions: Moreira-Nunes CA and Alcântara DFA contributed equally to this work; Moreira-Nunes CA, Alcântara DFA, Lima-Júnior SF, Cavalléro SRA, Pinto GR, Rey JA, Assumpção PP and Burbano RR conceived and designed the experiments; Moreira-Nunes CA, Alcântara DFA, Lima-Júnior SF and Cavalléro SRA performed the experiments; Moreira-Nunes CA, Alcântara DFA, Rey JA, Assumpção PP and Burbano RR analyzed the data; Moreira-Nunes CA, Alcântara DFA, Pinto GR and Burbano RR wrote the paper; all authors read and approved the final manuscript.
Supported by Grants from Conselho Nacional de Desenvolvimento Científico e Tecnológico (www.cnpq.br), No. 401976/2010-6 and No. 305220/2013-6 (to Burbano RR); and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (www.capes.gov.br), No. PNPD 2810/2011 (to Moreira-Nunes CA).
Institutional review board statement: The study was approved by the Research Ethics Committee of the João de Barros Barreto University Hospital (Belém, Pará, Brazil), approval number: 274/12.
Informed consent statement: All analyzed patients or their guardians signed a consent form, and it was assured that the use of biological material and study participation would not be harmful or negatively influence the patients’ treatment.
Conflict-of-interest statement: The authors have no conflicts of interest to declare. The funders of this study had no role in study design, data collection/analysis, publication decisions, or manuscript preparation.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Caroline Aquino Moreira-Nunes, PhD, Post-doctoral Research Fellow, Biological Science Institute, Federal University of Pará. Augusto Correa Street 01, Belem 66075110, Brazil. caroline@ufpa.br
Telephone: +559-182285161 Fax: +559-132017102
Received: July 24, 2014
Peer-review started: July 25, 2014
First decision: September 3, 2014
Revised: May 21, 2015
Accepted: June 16, 2015
Article in press: June 16, 2015
Published online: August 21, 2015
Core Tip

Core tip: In the northern region of Brazil, gastrointestinal tumors are the second most frequent type of cancer among men and the third most frequent among women. These tumors are considered a serious public health problem because they are often diagnosed in advanced stages and have extremely low survival rates. Evaluation of family history to determine the number of relatives affected and genetic screening analysis are important preventive measures to assist in the early diagnosis of patients who have not yet developed the disease, as was the case of some patients analyzed in this study.