Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. Feb 27, 2018; 8(1): 1-4
Published online Feb 27, 2018. doi: 10.5496/wjmg.v8.i1.1
Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer
Amrit Lamba, Parth Parekh, Chris T Dvorak, Jordan J Karlitz
Amrit Lamba, Department of Internal Medicine, Tulane University, New Orleans, LA 70112, United States
Parth Parekh, Department of Gastroenterology, Carillion Clinic, Roanoke, VA 24016, United States
Chris T Dvorak, Department of Genetics, Tulane University, New Orleans, LA 70112, United States
Jordan J Karlitz, Department of Gastroenterology, Tulane University, New Orleans, LA 70112, United States
Author contributions: Lamba A drafted the manuscript; Lamba A, Parekh P and Karlitz JJ acquired the data; Lamba A, Parekh P, Dvorak CT and Karlitz JJ critically revised the manuscript; Karlitz JJ created the study concept and is the article guarantor.
Informed consent statement: The patient involved in this study gave her written informed consent authorizing use and disclosure of her protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
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:
Correspondence to: Parth Parekh, MD, Academic Fellow, Department of Gastroenterology, Carillion Clinic, 1906 Belleview Ave, Roanoke, VA 24016, United States.
Telephone: +1-845-5513357
Received: September 8, 2017
Peer-review started: September 22, 2017
First decision: October 30, 2017
Revised: November 21, 2017
Accepted: December 29, 2017
Article in press: December 29, 2017
Published online: February 27, 2018
Core Tip

Core tip: Biochemical research, murine models, and 2 prior human families lend support to a genotypic-phenotypic correlation between alterations in the AXIN2 and polyposis/colorectal cancer. Our paper uses genetic testing and pedigree analysis to include a third family. This information would impact future genetic testing, the classification of identified variants, and screening in those with identified AXIN2 mutations and variants.