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The Role Of Connexin 40 In Susceptibility To Secondary Lymphedema Following Breast Cancer Treatment

Noon, Sarah (2012) The Role Of Connexin 40 In Susceptibility To Secondary Lymphedema Following Breast Cancer Treatment. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Approximately 1 in 8 women will be diagnosed with breast cancer during their lifetime; however, continuing advances in the field of medicine have increased the expected survival rate. With such an increase in survival rate among breast cancer patients, there has been a recent emphasis on quality of life post-surgery. One of the most feared complications following breast cancer surgery is the development of lymphedema. Approximately 20-30% of women treated for breast cancer are affected by the onset of secondary lymphedema. Unfortunately, there is no cure and only a portion of women witness improvements in arm symptoms from the available treatments.

Currently, there is no accepted model to successfully predict which women are at higher risk for development of lymphedema post treatment. An individual’s genotype as an identified risk factor is not typically considered when studying patient specific risk information. Since treatment for lymphedema is most successful when initiated early, identification of high risk women through detection of genetic risk factors can aid in early diagnosis, improved treatment outcome, and even prevention which is significant to the field of public health.

Mutations in the HGF and MET genes had been previously identified in breast cancer secondary lymphedema patients suggesting the possibility of a genetic predisposition to development of lymphedema. More recently, findings of mutations in the connexin 47 (GJA12/GJC2) gene in breast cancer secondary lymphedema patients confirmed a genetic predisposition. There are several connexins expressed in lymphatics and further investigation of their involvement with lymphedema onset is warranted.

The purpose of this study is to continue the investigation of the connexin genes and their involvement in secondary lymphedema. This is a case-control study designed to sequence the connexin 40 (GJA5) gene in women treated for breast cancer with and without a diagnosis of secondary lymphedema. In this study, 91 cases and 168 controls were sequenced for the connexin 40 gene. No previously unidentified connexin 40 mutations were found in this cohort of women analyzed. Despite no mutations being identified in connexin 40, further studies of the connexin genes are warranted given their expression and involvement in the lymphatic system.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Noon, Sarahsarahenoon@gmail.com
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairFinegold, Daviddnf@pitt.eduDNF
Committee CoChairFerrell, Robertrferrell@pitt.eduRFERRELL
Committee MemberBrufsky, Adambrufskyam@upmc.eduADB5
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Date: 2 July 2012
Date Type: Publication
Defense Date: 10 April 2012
Approval Date: 2 July 2012
Submission Date: 5 April 2012
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 64
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Breast Cancer, Secondary Lymphedema, Genetic Susceptibility, Connexin 40
Date Deposited: 02 Jul 2012 14:00
Last Modified: 19 Dec 2016 14:38
URI: http://d-scholarship.pitt.edu/id/eprint/11678

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