GJA4/Connexin 37 Mutations Correlate with Secondary Lymphedema Following Surgery in Breast Cancer Patients

Biomedicines
Mahrooyeh HadizadehMaziar Ashrafian Bonab

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 theGJA4gene (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 theGJA4gene 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 ...Continue Reading

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Citations

Jun 8, 2018·International Journal of Molecular Sciences·Filippo MolicaJonathan M Gibbins
Aug 23, 2020·Cancers·Melissa B AldrichEva M Sevick-Muraca
Jul 3, 2021·International Journal of Molecular Sciences·Ljuba C PonomarevAn Zwijsen
Apr 8, 2020·ACS Pharmacology & Translational Science·Claire E Trincot, Kathleen M Caron
Jan 15, 2022·Lymphatic Research and Biology·Nikolaos KapellasDimitrios Dionyssiou

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