In line with our commitment to lead through expert science, we’re proactively reclassifying BRCA2 variants—bringing clarity to patients facing uncertainty and empowering informed health decisions. 

From Research...

Ambry proudly collaborated on the groundbreaking Nature study, Functional Evaluation and Clinical Classification of BRCA2 Variants.¹ This publication studied 7,000 BRCA2 variants (1,300 previously seen at Ambry) and introduced a wealth of new functional data. 

To Reclass...
We’re excited to share the real-world impact this study is already having for patients tested at Ambry. Combined with the power of Ambry Classifi^®, the study has led to the downgrade of 521 BRCA2 variants:

• 114 VUS downgraded to Benign
• 406 VUS downgraded to Likely Benign

So far, over 4,200 patients have received reclassification notices—moving them from uncertainty to clarity.

...And We're Not Done.

Even more patients will gain clarity as we complete the analysis of the thousands of variants that were studied. Plus, 3,000+ BRCA2 variants have proposed classifications that have yet to be identified in patients tested at Ambry. Once seen, they’ll be classified for the very first time, reducing the burden of a VUS and eliminating the wait time for reclassifications.

Learn More

As always, we’ll keep you informed of your patients who carry variants that have been reclassified. Reach out to your Genomic Science Liaison (GSL) should you have any questions.

^{1. Huang H, et al. Nature (2025)}