A Review of Healthcare-Related Decisions Faced by Women at Risk for Hereditary Breast Cancer

Researcher Information

Abstract

Hereditary breast cancer is defined as cancer that results from pathogenic mutations that are generationally inherited. In the U.S., hereditary cancer accounts for 5-10% of all cancer cases. Furthermore, approximately 264,000 newly diagnosed breast cancer cases are linked to pathogenic mutations. Pathogenic mutations in BRCA1, BRCA2, PALB2, and other genes are linked to a higher lifetime risk of breast cancer and ovarian cancer; women with these pathogenic mutations have lifetime risk of breast cancer up to 85% and lifetime risk of ovarian cancer up to 54% . Previvors are defined as individuals with an identified pathogenic mutation prior to a cancer diagnosis; this term is used to emphasize their unique classification and the struggles they face regarding their health. After initial genetic test results, previvors are presented with various preventative and treatment options that may be difficult to navigate. The objective of this literature review is to provide an overview of health-care decisions faced by previvors after initial genetic testing results. Multiple databases, including PubMed and Google Scholar, were utilized to identify peer-reviewed articles using key terminologies related to the objective. Previvors face several health-related decisions, including preventative mastectomy vs. enhanced screening, oophorectomy, fertility options, educating family members about genetic testing, and access to life insurance. Further research is needed to understand the factors that influence a previvor’s decision regarding each of these options. In addition, evaluation studies should be conducted to measure the utilization and effectiveness of the shared-decision making process between previvors and their physicians.

Faculty Sponsors

Dr. Erin Biggs

Project Type

Event

Location

Alvin Sherman Library

Start Date

4-5-2023 12:00 PM

End Date

4-6-2023 4:00 PM

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A Review of Healthcare-Related Decisions Faced by Women at Risk for Hereditary Breast Cancer

Alvin Sherman Library

Hereditary breast cancer is defined as cancer that results from pathogenic mutations that are generationally inherited. In the U.S., hereditary cancer accounts for 5-10% of all cancer cases. Furthermore, approximately 264,000 newly diagnosed breast cancer cases are linked to pathogenic mutations. Pathogenic mutations in BRCA1, BRCA2, PALB2, and other genes are linked to a higher lifetime risk of breast cancer and ovarian cancer; women with these pathogenic mutations have lifetime risk of breast cancer up to 85% and lifetime risk of ovarian cancer up to 54% . Previvors are defined as individuals with an identified pathogenic mutation prior to a cancer diagnosis; this term is used to emphasize their unique classification and the struggles they face regarding their health. After initial genetic test results, previvors are presented with various preventative and treatment options that may be difficult to navigate. The objective of this literature review is to provide an overview of health-care decisions faced by previvors after initial genetic testing results. Multiple databases, including PubMed and Google Scholar, were utilized to identify peer-reviewed articles using key terminologies related to the objective. Previvors face several health-related decisions, including preventative mastectomy vs. enhanced screening, oophorectomy, fertility options, educating family members about genetic testing, and access to life insurance. Further research is needed to understand the factors that influence a previvor’s decision regarding each of these options. In addition, evaluation studies should be conducted to measure the utilization and effectiveness of the shared-decision making process between previvors and their physicians.