Genetic Susceptibility for Lymphedema Secondary to Breast Cancer Treatment: an Investigation of the Connexin Genes
Year: 2009
Type: article
Study design: Observational Study
Abstract: Secondary lymphedema is the accumulation of protein-rich fluid in the interstitial spaces of the extremities. It typically occurs as a result of a trauma or infection in the lymphatic system. This is a significant public health issue because lymphedema has emerged as one of the most debilitating consequences of breast cancer treatment and currently no model exists to predict who will be affected. The aim of this study was to examine genes that may increase the susceptibility to developing secondary lymphedema following breast cancer surgery and/or radiation. Perometry and bioelectrical impedance spectrometry (BIS) were also used to examine clinical and subclinical swelling in individuals. This is a case-control study that sequenced connexin genes of 70 women with secondary lymphedema and over 100 control participants without lymphedema. Connexins form gap junction channels that facilitate communication between cells. The connexins that were sequenced include connexin 47 (GJA12), connexin 37 (GJA4), connexin 40 (GJA5), and exon 2 of connexin 43 (GJA1). Four missense mutations and one synonymous substitution were identified in connexin 47. The mutations were not found to be polymorphic in control individuals. The identification of connexin 47 mutations is compelling and warrants further research to determine if and how this gene increases the risk of secondary lymphedema after breast cancer treatment. These findings could have implications for prevention, management, and early diagnosis of breast cancer-associated secondary lymphedema.
Author: Kelly Z. Knickelbein
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W113409259