DNA study links BRCA genes to aggressive early-onset breast cancer in black women

Black women experience disproportionately elevated risks of developing and dying from early-onset breast cancer. New research published by Wiley online in CANCER, a peer-reviewed journal of the American Cancer Society, reveals the genes that are most likely to be mutated to contribute to these increased risks.

In the study of 686 young Black women diagnosed in Florida and Tennessee with invasive breast cancer at age 50 or younger in 2005–2018, genetic testing showed that 15.3% of the women carried a gene variant with a suspected link to breast and/or ovarian cancer, with most occurring in the BRCA1 and BRCA2 genes and fewer in PALB2, ATM, and other genes. A family history of breast cancer was common in women with mutations in BRCA1, BRCA2, and PALB2. Triple-negative breast cancers (one of the most aggressive forms) were most often seen in women with BRCA1 mutations. Also, most of the women with BRCA1 mutations were diagnosed at or below age 40, whereas the age at diagnosis was more evenly distributed up to age 50 for women with variants in the other genes.

The study's findings point to the importance of breast cancer genetic testing for young Black women, a group that is less likely to receive such screening compared with other racial and ethnic groups. Such tests could identify women most likely to benefit from more frequent screening and preventive measures to safeguard their health.

"We must test at-risk women across all populations-testing is essential to personalize treatment strategies and enable life-saving prevention for future cancers, and it may empower at-risk family members to get tested so they too can benefit from this information," said senior author Tuya Pal, MD, of Vanderbilt University Medical Center.

Equitable access to inherited cancer testing ensures that all women, regardless of race, can benefit from precision medicine and take control of their genetic health."

Tuya Pal, MD, Vanderbilt University Medical Center