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Genetics and Genomics Commons

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Full-Text Articles in Genetics and Genomics

Cellular Localization Of Rad51d Mutant Proteins And The Application Of Art To Increase Scientific Literacy In America, Claire L. Chabot May 2019

Cellular Localization Of Rad51d Mutant Proteins And The Application Of Art To Increase Scientific Literacy In America, Claire L. Chabot

Senior Theses

Ovarian cancers are the leading cause of death from cancer of the female reproductive system. Approximately 50% of ovarian cancers have defects in the homologous recombination (HR) DNA repair pathway that is required for the repair of DNA double-stranded breaks. The status of HR genes, such as BRCA1, BRCA2, and the RAD51 family, contributes to ovarian cancer development as well as treatment decisions regarding chemotherapy, radiation, and immunotherapy. The overarching goal of this project is to identify new insights into HR that can integrate with Precision Medicine Initiatives and align with the goals of the Cancer Moonshot 2020 Program. I …


Brca1 And Brca2 Mutation Carrier Perspectives On Direct-To- Consumer Genetic Testing For Brca Mutations, Caitlyn E. Mitchell Apr 2019

Brca1 And Brca2 Mutation Carrier Perspectives On Direct-To- Consumer Genetic Testing For Brca Mutations, Caitlyn E. Mitchell

Theses and Dissertations

Recently the FDA authorized one direct-to-consumer genetic testing (DTC-GT) company to begin reporting certain genetic variants in the BRCA1 and BRCA2 genes. Pathogenic variants in these genes confer lifetime risks for breast and ovarian cancer in women as high as 87% and 62%, respectively. Historically, genetic testing for these mutations has been offered in a clinical setting where genetic counseling is part of the testing process. Genetic counseling is not routinely a part of DTC-GT, raising concern that those undergoing DTC-GT for BRCA1/2 mutations may not fully understand what is being tested, the implications of results, or that they may …


Impact Of Service Delivery Model On Patient Perceptions And Utility Of Genetic Counseling For Hereditary Breast And Ovarian Cancer: An Exploration Of Group Genetic Counseling, Alyssa M. Gates Apr 2019

Impact Of Service Delivery Model On Patient Perceptions And Utility Of Genetic Counseling For Hereditary Breast And Ovarian Cancer: An Exploration Of Group Genetic Counseling, Alyssa M. Gates

Theses and Dissertations

Patients at risk for hereditary breast and ovarian cancer (HBOC) traditionally participate in individual cancer genetic counseling sessions to be educated about cancer genetics concepts, their personal cancer risks and genetic testing. With expanding technology and increased public awareness of HBOC, referrals to cancer genetic counseling services have grown. The current number of practicing genetic counselors struggles to meet the demands of increased referrals, so new service delivery models need to be explored. The purpose of this study is to assess the utility of group genetic counseling for HBOC by evaluating the perspectives of patients that received group genetic counseling …