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GJA4/connexin 37 mutations correlate with secondary lymphedema following surgery in breast cancer patients

Hadizadeh, Mahrooyeh; Mohaddes Ardebili, Seiied; Salehi, Mansoor; Young, Chris; Mokarian, Fariborz; McClellan, James; Xu, Qin; Kazemi, Mohammad; Moazam, Elham; Mahaki, Behzad; Bonab, Maziar Ashrafian

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Authors

Mahrooyeh Hadizadeh

Seiied Mohaddes Ardebili

Mansoor Salehi

Chris Young

Fariborz Mokarian

James McClellan

Qin Xu

Mohammad Kazemi

Elham Moazam

Behzad Mahaki

Maziar Ashrafian Bonab



Contributors

Maziar Ashrafian Bonab
Supervisor

Abstract

Lymphedema is a condition resulting from mutations in various genes essential for lymphatic development and function, which leads to obstruction of the lymphatic system. Secondary lymphedema is a progressive and incurable condition, most often manifesting after surgery for breast cancer. Although its causation appears complex, various lines of evidence indicate that genetic predisposition may play a role. Previous studies show that mutations in connexin 47 are associated with secondary lymphedema. We have tested the hypothesis that connexin 37 gene mutations in humans are associated with secondary lymphedema following breast cancer surgery. A total of 2211 breast cancer patients were screened and tested for reference single nucleotide polymorphisms (SNPs) of the GJA4 gene (gap junction protein alpha 4 gene). The results presented in this paper indicate that two SNPs in the 3’ UTR (the three prime untranslated region) of the GJA4 gene are associated with an increased risk of secondary lymphedema in patients undergoing breast cancer treatment. Our results provide evidence of a novel genetic biomarker for assessing the predisposition to secondary lymphedema in human breast cancer patients. Testing for the condition-associated alleles described here could assist and inform treatment and post-operative care plans of breast cancer patients, with potentially positive outcomes for the management of disease progression.

Citation

Hadizadeh, M., Mohaddes Ardebili, S., Salehi, M., Young, C., Mokarian, F., McClellan, J., …Bonab, M. A. (2018). GJA4/connexin 37 mutations correlate with secondary lymphedema following surgery in breast cancer patients. Biomedicines, 6(1), 23. https://doi.org/10.3390/biomedicines6010023

Journal Article Type Article
Acceptance Date Feb 13, 2018
Online Publication Date Feb 22, 2018
Publication Date Mar 1, 2018
Deposit Date Aug 13, 2019
Publicly Available Date Mar 28, 2024
Journal Biomedicines
Electronic ISSN 2227-9059
Publisher MDPI
Peer Reviewed Peer Reviewed
Volume 6
Issue 1
Pages 23
DOI https://doi.org/10.3390/biomedicines6010023
Keywords connexin 37; secondary lymphedema; breast cancer; GJA4 gene; single nucleotide polymorphism (SNP)
Public URL https://uwe-repository.worktribe.com/output/2043605
Publisher URL https://doi.org/10.3390/biomedicines6010023

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GJA4/Connexin 37 Mutations Correlate with Secondary Lymphedema Following Surgery in Breast Cancer Patients (1.2 Mb)
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Licence
http://creativecommons.org/licenses/by/4.0/

Publisher Licence URL
http://creativecommons.org/licenses/by/4.0/

Copyright Statement
© 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access
article distributed under the terms and conditions of the Creative Commons Attribution
(CC BY) license (http://creativecommons.org/licenses/by/4.0/).







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