E1174. Incorporation of Genetic Screening in Breast Imaging Patients
  1. Kristen Reeder; Frank H. Netter MD School of Medicine at Quinnipiac University
  2. Joseph Wetherell; Frank H. Netter MD School of Medicine at Quinnipiac University
  3. Devika Jajoo; Griffin Hospital; Jefferson Radiology
Hereditary breast cancer syndromes account for about 10% of all breast cancers (1). Mutations of “BReast CAncer” genes, known as BRCA1 and BRCA2, are associated with an increased incidence of breast and ovarian cancer, compared to the general population (2,3). It is also known that individuals who have BRCA1/2 pathogenic mutations have cancers demonstrating a more aggressive pathological process, leading to poorer health outcomes. Advances in genetic testing have led to an increase in clinicians’ knowledge and awareness of many additional genes associated with hereditary breast cancer syndromes. By including not only BRCA1/2, clinicians can utilize multi-gene panels to further identify at-risk individuals and decrease overall morbidity and mortality through closer clinical follow up and focused screening strategies, such as contrast-enhanced breast MRI, at an earlier age (3).

Educational Goals / Teaching Points
The educational goals of this presentation are to describe hereditary and familial breast cancer, to describe breast cancer risk models, to describe the role of genetic testing for breast cancer risk stratification, and to discuss management options for high-risk patients.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
Imaging techniques vary for the surveillance of breast cancer, especially in patients who have been identified as higher risk. When compared to the general population, screening mammography alone has a lower sensitivity in detecting breast cancer in these individuals. It is recommended that this high-risk population pursue additional imaging for cancer screening (4). This presentation will discuss how to identify individuals with higher risk of breast cancer and review ACR imaging guidelines pertaining to breast cancer. We will also present a case of a high-risk patient whose breast cancer was occult on routine screening mammography and was detected only after undergoing genetic screening and subsequent supplemental and focused imaging.

The incorporation of genetic screening increases the chances of identifying a hereditary breast cancer in high-risk patients (5). The National Comprehensive Cancer Network (NCCN) recommends that individuals who have a known genetic pathogenic mutation or who are at high-risk (greater than 20% risk of breast cancer) should receive annual screening mammography, with tomosynthesis considered, starting no earlier than age 30. Additionally, breast MRI screening should begin no earlier than 25 years of age. Clinical breast examination should be performed every 6-12 months no earlier than age 21 in those at high-risk (3). By understanding an individual's lifetime risk, breast cancer screening guidelines can be adapted accordingly, leading to earlier detection of breast cancer and to discussions between an individual and their provider on possible risk-reduction interventions.