Back to Journals » OncoTargets and Therapy » Volume 11

c.1439delA frameshift deletion mutation in familial adenomatous polyposis

Authors Ma DJ, Wang BS, Yue JB, Li ZJ, Sun YL

Received 8 August 2018

Accepted for publication 20 November 2018

Published 11 December 2018 Volume 2018:11 Pages 8987—8993

DOI https://doi.org/10.2147/OTT.S183153

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Amy Norman

Peer reviewer comments 3

Editor who approved publication: Dr Carlos E Vigil


De-Jian Ma,1 Bi-Shi Wang,2 Jin-Bo Yue,3 Zeng-Jun Li,2 Yan-Lai Sun2

1Department of Surgical Oncology, School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250062, China; 2Department of Gastrointestinal Cancer Surgery, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan 250117, China; 3Department of Radiation Oncology, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan 250117, China

Abstract: Familial adenomatous polyposis (FAP) is a rare autosomal dominant genetic disease related to germline mutations of the APC gene. The clinical features of this disease most commonly include hundreds of adenomas or polyps. If not treated in a timely fashion, FAP can eventually result in colorectal carcinoma. In this report, clinical manifestations, family history, relevant auxiliary examinations and gene detection from patient blood led us to discover a novel frameshift mutation in exon 12 of the APC gene. The deletion of adenine in c.1439 resulted in the formation of codon 480. The occurrence of this frameshift deletion may lead to inexpressibility of the main functional regions in APC and may affect gene function. In addition, colonoscopy and histopathology showed malignant changes in the colon and rectum. There have been no reports of this frameshift mutation, but it can be considered in case of APC mutations and FAP in patients with clinical manifestations; auxiliary examination may be related, and it may be used as a reference for preventive clinical treatment in the future.

Keywords: familial adenomatous polyposis, mutation, APC gene, exon 12, colorectal cancer

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]