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Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

University of South Florida

2019

Genetic counseling

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Full-Text Articles in Medicine and Health Sciences

Medical Decision Making Among Individuals With A Variant Of Uncertain Significance In A Hereditary Cancer Gene And Those With A Chek2 Pathogenic Variant, Deanna J. Almanza Mar 2019

Medical Decision Making Among Individuals With A Variant Of Uncertain Significance In A Hereditary Cancer Gene And Those With A Chek2 Pathogenic Variant, Deanna J. Almanza

USF Tampa Graduate Theses and Dissertations

Despite national guidelines, women with a BRCA VUS or CHEK2 pathogenic variant are choosing to have risk-reducing surgeries such as bilateral mastectomies which are not aligned with their level of cancer risk based on genetic test results alone. Semi-structured telephone interviews were conducted with 6 women with a BRCA VUS and 12 with a CHEK2 pathogenic variant exploring the factors influencing their decision-making process when considering medical management options. Patients from a cancer registry agreed to a recorded telephone interview. Coding was performed using the main constructs from the Ottawa Patient Decision Guide including: knowledge, uncertainty, values, and support. Iterative …


Comparing Family Sharing Behaviors In Brca Carriers With Palb2 Carriers, Joy E. Kechik Mar 2019

Comparing Family Sharing Behaviors In Brca Carriers With Palb2 Carriers, Joy E. Kechik

USF Tampa Graduate Theses and Dissertations

Identifying individuals with hereditary cancer predisposition can improve health outcomes for patients and their family members through early cancer detection and prevention strategies. Prior research about family sharing of genetic test results among those with hereditary breast cancer has overwhelmingly been limited to the BRCA1 and BRCA2 genes. The present study sought to compare family sharing behaviors in women with pathogenic BRCA variants to women with pathogenic variants in the more recently identified and characterized PALB2 gene. A total of 18 BRCA carriers and 13 PALB2 carriers were interviewed about family sharing practices using a semi-structured guide based on the …