Study Highlights Inherited Breast Cancer Risk Genes in Young Black Women

Early-onset breast cancer remains a significant concern, with some cases presenting as triple-negative disease, one of its most aggressive forms. Black women face disproportionately elevated risks of developing and dying from breast cancer diagnosed at or before age 50. Although genetic screening can clarify inherited risk and guide care, it remains underused in this group. New findings now identify the genes most commonly harboring variants among young Black women with invasive breast cancer.

Vanderbilt University Medical Center (Nashville, TN, USA) researchers contributed to a study that assessed hereditary cancer genetic testing among 686 young Black women with invasive breast cancer diagnosed in Florida and Tennessee. The technology involves testing genes known to influence inherited cancer risk to determine whether individuals carry variants associated with breast and/or ovarian cancer. Genes examined in the analysis included BRCA1, BRCA2, PALB2, and ATM, among others.

Image: The findings support genetic testing to guide screening and preventive care in young Black women with breast cancer (image credit: iStock)

In the cohort diagnosed at age 50 or younger during 2005–2018, 15.3% of women carried a gene variant with a suspected link to breast and/or ovarian cancer. Most of these variants occurred in BRCA1 and BRCA2, with fewer identified in PALB2, ATM, and other genes. A family history of breast cancer was common among women with variants in BRCA1, BRCA2, and PALB2.

Triple-negative breast cancers were most often observed in women with BRCA1 variants. Most women with BRCA1 variants 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 other genes. The authors note that these findings underscore the importance of genetic testing for young Black women, a group that is less likely to receive such screening compared with other racial and ethnic groups. The study is published in Cancer on June 8, 2026.

"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 Tuya Pal, MD, senior author at 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."

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