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Full-Text Articles in Medicine and Health Sciences
Investigating The Role Of Endothelial Breast Cancer Susceptibility Gene 2 In Doxorubicin-Induced Cardiotoxicity, Berk U. Rasheed
Investigating The Role Of Endothelial Breast Cancer Susceptibility Gene 2 In Doxorubicin-Induced Cardiotoxicity, Berk U. Rasheed
Electronic Thesis and Dissertation Repository
Doxorubicin (Dox) is a chemotherapeutic drug used to treat various malignancies including breast and ovarian cancers. Accumulating evidence implicates cardiac impairments associated with Dox treatment. The Breast Cancer Susceptibility Gene 2 (BRCA2) functions to maintain genome-wide stability by promoting DNA-damage repair. Accordingly, cardiomyocyte damage is specifically regulated by contributors of DNA damage repair such as BRCA2. The endothelium, the innermost cells of every blood vessel, act to protect our tissues from noxious elements, however, recent evidence suggests that BRCA2 knockdown compromises endothelial cell function. A putative role of endothelial BRCA2 during Dox-induced cardiotoxicity (DIC) remains unknown. We hypothesized that endothelial-specific …
Genetic Screening For Breast Cancer In The Primary Care Setting, Michael Nick Gomez
Genetic Screening For Breast Cancer In The Primary Care Setting, Michael Nick Gomez
Doctor of Nursing Practice
The purpose of this project was to increase adherence to the U.S. Preventive Services Task Force and National Comprehensive Cancer Network guidelines for breast cancer screening and genetic testing.Screening for breast cancer risk factors including genetic testing helps reduce the incidence of breast cancer. A protocol was developed based on national clinical guidelines to increase screening and genetic testing for breast cancer. Provider responsibilities included screening all patients 18 years of age and older for risks factors of breast cancer, referring patients with a significant risk based on the screening for genetic testing and providing referrals for genetic counseling …
Factors Influencing Uptake Of Risk-Reducing Salpingo-Oophorectomy By Brca1 And Brca2 Mutation Carriers, Victoria E. Breen
Factors Influencing Uptake Of Risk-Reducing Salpingo-Oophorectomy By Brca1 And Brca2 Mutation Carriers, Victoria E. Breen
Dissertations & Theses (Open Access)
Germline mutations in the BRCA1 and BRCA2 genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo-oophorectomy (RRSO) after age 35; however, not all women elect this option. The purpose of this study was to prospectively survey women with BRCA mutations currently undergoing ovarian cancer screening about their intention to have an RRSO and the various factors influencing their decision. Of the 26 women who completed our survey, 26 (100%, CI: 86.8-100) plan to undergo an RRSO in their lifetime. The average woman reported …
Detection, Prioritization And Analysis Of Variants Of Unknown Significance In Familial Breast Cancer Genes, Eddie A. Dovigi
Detection, Prioritization And Analysis Of Variants Of Unknown Significance In Familial Breast Cancer Genes, Eddie A. Dovigi
Electronic Thesis and Dissertation Repository
Currently, Molecular Diagnostics Laboratories in Ontario sequence coding and adjacent intronic regions in BRCA1 and BRCA2 in patients with a family history of breast cancer. At LHSC it is estimated that ~15% of patients have BRCA1 or BRCA2 variants of clinical significance, and ~15-20% patients have variants of unknown clinical significance (VUS), while the remaining patients have variants of no clinical significance, making patient prognosis difficult to ascertain. To elucidate VUS and improve deleterious variant detection, my study has three aims, 1) assess the effects of VUS on splicing using bioinformatics and transfection assays; 2) investigate the limitations of BRCA1 …