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Ambry Genetics Advances BRCA2 Variant Classification with CRISPR-Based Study Published in Nature

NextEdge Admin

09 Jan 2025

2 min 37 sec

Ambry Genetics, a leader in clinical genomic testing, has contributed to a groundbreaking study published in Nature that advances the understanding of BRCA2 gene variants. As genetic testing expands, scalable interpretation of detected variants is crucial. This study used CRISPR/Cas9 gene editing to functionally characterize nearly 7,000 BRCA2 variants, addressing variants of uncertain significance (VUS) to improve clinical management.

BRCA2 is a key cancer predisposition gene linked to breast, ovarian, prostate, and pancreatic cancers. Despite its importance, over 5,000 BRCA2 variants remain classified as VUS in ClinVar due to insufficient evidence. Led by Dr. Fergus J. Couch of Mayo Clinic, the study involved experts from Mayo Clinic, H. Lee Moffitt Cancer Center, University of Pennsylvania, Memorial Sloan Kettering, Duke University, and Ambry Genetics.

The findings were integrated into a ClinGen/ACMG/AMP model for clinical interpretation, achieving a 91% classification rate and demonstrating the potential to enhance hereditary cancer testing. “These results show the power of functional genetic data in refining hereditary cancer risk assessment,” said Dr. Marcy Richardson, Associate Director of Clinical Research at Ambry Genetics.

Dr. Couch emphasized the impact of collaborative research in improving BRCA2 classification and cancer risk prediction. Dr. Elizabeth Chao, Ambry’s Chief Medical Officer, highlighted the importance of inclusive genetic testing to offer precise, data-driven recommendations for cancer prevention.

Co-published alongside an NIH study using a different model, this research represents a major advancement in variant classification, equipping clinicians with better tools for assessing hereditary cancer risks.

Ambry Genetics is dedicated to translating genomic research into actionable clinical insights, enabling healthcare providers to make informed decisions for patient care.