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.
| Identifer | oai:union.ndltd.org:PITT/oai:PITTETD:etd-04072009-143948 |
| Date | 29 June 2009 |
| Creators | Knickelbein, Kelly Zilles |
| Contributors | Elizabeth Gettig, MS, CGC, Adam Brufsky, MD, PhD, David Finegold, MD, Robert Ferrell, PhD |
| Publisher | University of Pittsburgh |
| Source Sets | University of Pittsburgh |
| Language | English |
| Detected Language | English |
| Type | text |
| Format | application/pdf |
| Source | http://etd.library.pitt.edu/ETD/available/etd-04072009-143948/ |
| Rights | restricted, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to University of Pittsburgh or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report. |
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