Challenges to genetic testing for germline mutations associated with breast cancer among African Americans

• Published in: Cancer treatment reviews 2024-03, Vol.124, p.102695-102695, Article 102695
• Main Authors: Kamaraju, S., Conroy, M., Harris, A., Georgen, M., Min, H., Powell, M., Kurzrock, R.
• Format: Article
• Language: English
• Subjects: African Americans; And cancer disparities; Breast cancer; Germline mutations; Social determinants of health
• ISSN: 0305-7372; 1532-1967
• DOI: 10.1016/j.ctrv.2024.102695

[Display omitted] •Inequities in cancer screening and inferior outcomes affect underserved minorities.•African Americans’ BRCA1/2 germline mutation prevalence nears that of Ashkenazi Jews.•African American breast cancer risk is high with altered germline ATM, BRCA, PALB2 or CHEK2.•Germline testing is essential for African American women with breast cancer. Inequities in preventive cancer screening, diagnosis, treatment, and inferior cancer outcomes continue to pose challenges across the cancer continuum. While the exact reasons for these inferior outcomes are unknown, multiple barriers to various domains of social determinants of health (SDOH) play a vital role, leading to inequities in cancer care. These include barriers to transportation, housing, and food insecurities, contributing to delays in preventive screening and treatment. Furthermore, aggressive biologies also exist across various racial profiles with accompanying germline mutations. For example, African Americans (AAs) have a higher incidence of triple-negative breast cancer subtype and a high prevalence of BRCA1/2 gene mutations, increasing the risk of multiple cancers, warranting high-risk screening for these populations. Unfortunately, other barriers, such as financial insecurities, low health literacy rates, and lack of awareness, lead to delays in cancer screening and genetic testing, even with available high-risk screening and risk reduction procedures. In addition, physicians receive minimal interdisciplinary training to address genetic assessment, interpretation of the results, and almost no additional training in addressing the unique needs of racial minorities, leading to suboptimal delivery of genetic assessment provision resources among AAs. In this review, we discuss the confluence of factors and barriers limiting genetic testing among AAs and highlight the prevalence of germline mutations associated with increased risk of breast cancer among AAs, reflecting the need for multi-panel germline testing as well as education regarding hereditary cancer risks in underserved minorities.