BCRF 2016 Research Portfolio Highlight – Heredity and Ethnicity

The Foundation continues major research investments in cancer genetics and disparities

Identifying high-risk individuals is key to preventing breast cancer

Only about 10 percent of breast cancer cases are the result of gene mutations inherited from one’s biological parents. The most common of these are mutations in the BRCA1 and BRCA2 genes. In 2013, actress Angelina Jolie brought BRCA1 mutations to the headlines and made it the most well-known of these gene mutations. While we know that certain mutations of BRCA1 and BRCA2 can increase a women’s risk of getting breast cancer, there may be other genes that can affect that risk as well. Dr. Fergus Couch, recipient of the 2016 AACR Outstanding Investigator Award for Breast Cancer Research is developing a polygenic risk score to reclassify an individual’s risk based on variations in particularly genes. Understanding which groups are at highest risk and ensuring access to screening and appropriate genetic counseling are key prevention strategies in this population.

For nearly 20 years, BCRF has been investing in studies aimed at understanding genetic risk and prevention of breast cancer in high-risk women. In 2016 alone, BCRF is investing $3.5 million

For nearly 20 years, BCRF has been investing in studies aimed at understanding genetic risk and prevention of breast cancer in high-risk women. In 2016 alone, BCRF is investing $3.5 million in studies to:

• increase access to mammography and genetic screening in low resource Latina populations
• study the frequency of BRCA 1/2 mutations in women of Ashkenazi Jewish descent without a family history of breast cancer
• identify new BRCA variants to better assess breast and ovarian cancer risk in BRCA mutation carriers
• improve our understanding of genetic counseling in the real world setting to improve best practices
• Identify clinically relevant gene mutations other than BRCA1 and BRCA2

Breast Cancer Disparities

Over the last 20 years, there has been a major problem in breast cancer prevention, diagnosis, and care: while overall mortality rates have improved by more than 30%, the bad news is that black women are still more likely to die from the disease than white women. BCRF investigators, like Dr. Christine Ambrosone, are trying to understand why. Dr. Ambrosone currently studies racial differences at a DNA level to increase our understanding of breast cancer biology, particularly for more aggressive triple negative breast cancers, which occur more frequently in African Americans compared to Caucasians.

In addition to biological differences, there may be other reasons for the disparities we see in breast cancer. Dr. Marc Hurlbert explains that differences in access to public health systems, and hence, differences in access to—and quality of—mammography and treatment are likely contributing to the problem. You can read more about this study and its findings in this recent blog post.

This year, BCRF has invested over $5 million in heredity and ethnicity research. Over 20 investigators are studying areas related to heredity and ethnicity including prevention and early detection, basic biology of BRCA-related breast cancers, racial disparities, and clinical trials.

To read more about this work of BCRF investigators go to the Our Researchers page and search under Heredity & Ethnicity.