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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
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 …
Evaluation Of Clinical Practices And Needs About Variants Of Uncertain Significance Results In Inherited Cardiac Arrhythmia And Inherited Cardiomyopathy Genes, Reka D. Muller
USF Tampa Graduate Theses and Dissertations
The increasing numbers of genetic tests in clinical settings have identified many variants of uncertain significance (VUS) in genes associated with inherited cardiac arrhythmias and inherited cardiomyopathies. Evaluation of clinical practices including counseling strategies and medical management recommendations for patients and their families is important to improve patient outcomes and prevent over- or under-treatment that may result in morbidity or fatality. The purpose of this study is to describe provider practices related to VUS results including how they conduct risk assessments and ascertain what information and medical management recommendations they provide to patients with VUS results and the patients’ family …
Comparing Family Sharing Behaviors In Brca Carriers With Palb2 Carriers, Joy E. Kechik
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 …