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Hereditary Breast Cancer: How BCRF Researchers Are Uncovering Inherited Risk Factors
Family history, race and ethnicity are breast cancer risk factors that have long been part of the BCRF research agenda.
Most people who develop breast cancer have no family history of the disease, but sometimes that’s not always the case. A person’s family history, genetics, race and ethnicity are all important risk factors that can contribute to an individual’s breast cancer risk.
This year, BCRF is investing nearly $7 million in understanding the underlying causes of breast cancer nearly half of which is committed to understanding the influence of inherited mutations and ethnicity as well as how to reduce the risk or prevent breast cancer in high risk groups.
BRCA Genetic Mutations
Up to 10 to 15 percent of breast cancers are thought to be due to hereditary factors. The most common genes involved in hereditary risk for breast cancer are the BRCA genes, BRCA1 and BRCA2. BCRF researchers Drs. Mary-Claire King and Alan Ashworth propelled our understanding of the role of BRCA1 and BRCA2 in hereditary breast cancer, which led to the development of genetic tests that are in use today.
About 12 percent of women in the general population in the U.S., will develop breast cancer during their lives. By contrast, about 72 percent of those with a BRCA1 mutation and about 69 percent of those with a BRCA2 will develop breast cancer by the age of 80. In men with BRCA2 mutations, the risk of developing breast cancer increases from 0.1 percent in the general population to 8 percent.
While BRCA mutations are rare in the general population, certain populations have a much higher risk of inheriting a BRCA mutation. In those with Ashkenazi Jewish (Eastern European) heritage, the chance of inheriting a BRCA gene mutation is 1 in 40, compared to 1 in 500 in the general population. BRCA mutations are responsible for 10 percent of breast cancer and 40 percent of ovarian cancer cases in Jewish people of Ashkenazi origin.
Less is known about the prevalence of BRCA mutations in other populations. BCRF investigators Drs. Ephrat Levy-Lahad, Mary-Claire King and Moien Kanaan have conducted genetic testing in 1,200 breast cancer patients of Arab ancestry, the largest cohort of Arab women in the world to have cancer genetics testing. Thanks to BCRF, genetic testing is now routinely undertaken for breast cancer patients at most major Palestinian hospitals.
Other Genetic Mutations
BRCA mutations, however, account for only 5 to 10 percent of hereditary breast cancers. Because of work by BCRF researchers Drs. Kenneth Offit, Mark Robson, Fergus Couch, James Ford, and others, our understanding of inherited risk has expanded to include genes other than BRCA. Other confirmed breast cancer predisposing genes include PALB2, CHK2, BARD1 TP53, and ATM and many more have been identified but their level of risk is unclear.
2019 BCRF Research Highlights
This year, BCRF investigators continue their quest to better understand hereditary breast cancer. Below are some of the studies we are currently supporting:
- BCRF researchers Drs. Susan Domchek, Kenneth Offit, Katherine Nathanson and Judy Garber are testing a novel screening program in women and men with Ashkenazi ancestry to identify families at risk of breast and other cancers.
- Investigators are studying the underlying mechanisms of BRCA-driven breast cancer. Dr. David Livingston has identified key biological and molecular steps that give rise to BRCA1-mutant breast cancer.
- BCRF researchers Drs. Fergus Couch, Ford, Kenneth Offit and Mark Robson are working to improve risk prediction in high risk individuals and identify new genes responsible for the unexplained high rates of breast cancer in some families.
Race and Ethnicity
- Drs. Dezheng Huo and Funmi Olopade are identifying novel inherited and non-inherited DNA alternations that contribute to aggressive breast cancers in diverse populations.
- Dr. Jeffrey Weitzel and his team are working to address disparities in access to genetic cancer risk assessment (GCRA) and breast cancer prevention in Latin American populations