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GENETIC SUSCEPTIBILITY FOR LYMPHEDEMA SECONDARY TO BREAST CANCER TREATMENT: AN INVESTIGATION OF THE CONNEXIN GENES

Knickelbein, Kelly Zilles (2009) GENETIC SUSCEPTIBILITY FOR LYMPHEDEMA SECONDARY TO BREAST CANCER TREATMENT: AN INVESTIGATION OF THE CONNEXIN GENES. Master's Thesis, University of Pittsburgh. (Unpublished)

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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.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Knickelbein, Kelly Zilleskelzil@hotmail.com
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairFerrell, Robertrferrell@pitt.eduRFERRELL
Committee MemberBrufsky, Adambrufskyam@upmc.eduADB5
Committee MemberFinegold, Daviddnf@pitt.eduDNF
Committee MemberGettig, Elizabethbgettig@pitt.eduBGETTIG
Date: 29 June 2009
Date Type: Completion
Defense Date: 31 March 2009
Approval Date: 29 June 2009
Submission Date: 7 April 2009
Access Restriction: 5 year -- Restrict access to University of Pittsburgh for a period of 5 years.
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: arm edema; axillary lymph node dissection; FOXC2; HGF/MET; lymphoscintigraphy; Meige disease; Milroy disease; sentinel node biopsy; SOX18; VEGFR3
Other ID: http://etd.library.pitt.edu/ETD/available/etd-04072009-143948/, etd-04072009-143948
Date Deposited: 10 Nov 2011 19:34
Last Modified: 19 Dec 2016 14:35
URI: http://d-scholarship.pitt.edu/id/eprint/6859

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