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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 and Ashrafian Bonab, Maziar (2018) GJA4/Connexin 37 Mutations Correlate with Secondary Lymphedema Following Surgery in Breast Cancer Patients. Biomedicines, 6 (1). p. 23. ISSN 2227-9059

Item Type: Article


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.

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Depositing User: Leah Maughan


Item ID: 12939
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ISSN: 2227-9059
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ORCID for Maziar Ashrafian Bonab: ORCID iD

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Date Deposited: 04 Jan 2021 17:03
Last Modified: 04 Jan 2021 17:15


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

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Faculty of Health Sciences and Wellbeing > School of Nursing and Health Sciences

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