Genetic Risk Score Revolutionizes TNBC Prediction in Black Women

Black women in the U.S. often face a higher risk of developing aggressive breast cancer, particularly triple-negative breast cancer (TNBC), which can occur before routine screening is recommended. To address this disparity, accurate risk prediction methods are crucial. A multiple-ancestry polygenic risk score (MA-PRS), developed from genetic data of diverse populations, has shown promise in predicting overall breast cancer risk. In this study, researchers assessed the effectiveness of MA-PRS in predicting TNBC and early-onset TNBC in a large cohort of self-reported Black women.

Analyzing data from over 14,000 eligible participants, predominantly under 50 years old, the study found that MA-PRS significantly improved TNBC risk prediction beyond clinical factors alone. Specifically, women in the top 5% of MA-PRS distribution had roughly twice the risk of TNBC compared to the general population. Importantly, MA-PRS demonstrated comparable impact to mammographic density, a well-established risk factor for breast cancer.

The findings suggest that incorporating MA-PRS into breast cancer risk assessment could enhance early detection and potentially improve survival rates for TNBC among Black women. By accurately identifying those at elevated risk, interventions and screening strategies can be tailored more effectively, addressing a critical need in breast cancer management for this demographic.

Here, Holly Pederson, MD, breast medical oncologist at Cleveland Clinic, and Elisha Hughes, PhD, director of biostatistics at Myriad Genetics, discuss the findings and implications from this study presented at ASCO 2024.

Transcription:

0:05 | The polygenic score was really powerful risk stratifier, or it really explains a lot of the genetic susceptibility that many women have for, you know, overall breast cancer and specifically triple-negative disease. About as powerful as everything else combined with the exception of maybe mammographic density, and the polygenic score and mammographic density are both, I would say equally powerful risk stratifiers.

0:30 | This may change, help to change, screening recommendations even, because it shouldn’t just be based on age, but also on ancestry and genetics. I mean, it only makes sense. The other, you know, the other main implication is that we are looking to evaluate young women and identify those families that seem as if they may have a heritable disorder to prevent future cancers. But we’d also love to identify the woman who might be at risk. And and it’s, it’s about 6% of women who really fall into that high-risk category. But that’s an important 6%. So we’d like to make a difference there.