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Date of Award

Spring 2025

Degree Name

Master of Medical Science (Physician Assistant)

Department

Physician Assistant; College of Health Sciences

First Advisor

Kimberly Erikson

Abstract

Breast cancer affects approximately 1 in 8 women, with about 10% of cases having a hereditary component. In the primary care setting, providers play a crucial role in identifying individuals at increased risk for hereditary breast cancer and connecting them to appropriate resources. Various screening tools, including the GAIL/BCRAT, BCSC, and IBIS/Tyrer-Cuzick models, help identify high-risk individuals and potential carriers of high-risk genetic mutations. Key mutations associated with increased breast cancer risk include BRCA1, BRCA2, ATM, CDH1, PALB2, PTEN, STK11, and TP53, all of which require specific screening protocols. Additionally, risk-reducing strategies such as surgery and chemoprevention will be reviewed. This current breast cancer screening protocols, indications for genetic counseling referrals, commonly implicated genes, and risk-reduction strategies for hereditary breast cancer will be reviewed.

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Hereditary Breast Cancer Screening in the Primary Care Setting

Breast cancer affects approximately 1 in 8 women, with about 10% of cases having a hereditary component. In the primary care setting, providers play a crucial role in identifying individuals at increased risk for hereditary breast cancer and connecting them to appropriate resources. Various screening tools, including the GAIL/BCRAT, BCSC, and IBIS/Tyrer-Cuzick models, help identify high-risk individuals and potential carriers of high-risk genetic mutations. Key mutations associated with increased breast cancer risk include BRCA1, BRCA2, ATM, CDH1, PALB2, PTEN, STK11, and TP53, all of which require specific screening protocols. Additionally, risk-reducing strategies such as surgery and chemoprevention will be reviewed. This current breast cancer screening protocols, indications for genetic counseling referrals, commonly implicated genes, and risk-reduction strategies for hereditary breast cancer will be reviewed.