Ambry Genetics Enhances Understanding of BRCA2 Variants for Cancer

Ambry Genetics Enhances Understanding of BRCA2 Variants for Cancer

ALISO VIEJO, Calif.—Ambry Genetics, a leader in clinical genomic testing, has undoubtedly made significant strides in the area of BRCA2 gene variant classification. Their recent collaboration with renowned research institutions has provided critical insights into nearly 7,000 variants of this important gene. These efforts will undoubtedly advance the methods used to interpret genetic testing results in the context of hereditary cancers.

Importance of BRCA2 in Hereditary Cancers

The BRCA2 gene holds an indispensable role in cancer predisposition, affecting numerous individuals with a familial history of cancer. Pathogenic variants in this gene have been linked to breast, ovarian, prostate, and pancreatic cancers. Despite the growing awareness about its significance, more than 5,000 variants of BRCA2 have been classified as variants of uncertain significance (VUS). This classification often leads to confusion for patients and healthcare providers alike, which was the impetus for this groundbreaking study.

Challenges in Variant Classification

The classification of BRCA2 variants as VUS typically arises from a lack of sufficient evidence to support their classification as either benign or pathogenic. This ambiguity complicates the clinical management of patients undergoing genetic testing. Thus, resolving these classifications is critical for improving patient care and reducing anxiety related to risk assessments.

Collaboration Among Leading Institutions

Led by Dr. Fergus J. Couch from Mayo Clinic, this vital research brought together experts from various esteemed institutions. These institutions included H. Lee Moffitt Cancer Center, the Perelman School of Medicine at the University of Pennsylvania, Memorial Sloan Kettering Cancer Center, and Duke University. The collaborative approach allowed for comprehensive evaluation and functional analysis of BRCA2 variants.

Utilizing Innovative Techniques

Employing cutting-edge CRISPR/cas-9 technology, the team was able to effectively study the functional contributions of BRCA2 variants to cancer development. This methodology enabled the team to generate valuable data that would illuminate the roles of previously ambiguous genetic variants. The findings from this study embody a substantial leap forward in our understanding of hereditary cancer risk, and the implications for clinical management are promising.

Promising Results for Variant Classification

The outcomes of the study were integrated into a classification model developed by ClinGen, ACMG, and AMP, yielding an impressive 91% rate of successful variant classification. This high classification rate indicates a transformative potential for the landscape of hereditary cancer testing, thereby improving the accuracy and reliability of test results across different providers.

Power of Integrating Functional Data

Dr. Marcy Richardson, Associate Director of Clinical Research at Ambry Genetics, emphasized the integration of functional genetic data with clinical analysis. She noted that this integration not only enhances understanding of hereditary cancer risks but also refines clinical management strategies for patients. With better data, clinicians are empowered to make informed recommendations that help mitigate cancer risk.

A Shift Toward Personalized Care

Dr. Elizabeth Chao, Chief Medical Officer at Ambry Genetics, highlighted the vital role genetic testing plays in personalized medicine. By moving beyond traditional family history assessments, clinicians can now offer a more individualized approach to cancer prevention strategies. This shift in perspective allows healthcare providers to better engage patients in proactive healthcare measures.

Continued Research and Future Directions

The collaborative study represents a significant advancement in both understanding and classifying BRCA2 variants. It was published alongside another pertinent study conducted with the NIH, both targeting the same issues but through different approaches. Together, they mark a crucial progression for variant classification and provide clinicians with the essential data needed for evaluating cancer risks linked to genetic mutations.

About Ambry Genetics

Ambry Genetics has made a lasting impact in the realm of genetic testing, translating research into clinically actionable insights. With a focus on improving health through a deeper understanding of the human genome, Ambry continues to lead in the field by collaborating with various academic and corporate partners. Their commitment to innovation, alongside a growing database, ensures that healthcare providers have access to the latest advancements in genetic testing.

Frequently Asked Questions

What is the significance of the BRCA2 gene?

The BRCA2 gene is critical for identifying individuals at risk for hereditary cancers, especially breast and ovarian cancers.

How does this study improve the classification of BRCA2 variants?

The study utilized CRISPR/cas-9 technology to functionally characterize BRCA2 variants, improving classification accuracy through combined clinical and functional data.

Who led this research study?

The research was led by Dr. Fergus J. Couch of Mayo Clinic with a collaborative effort from several leading cancer research institutions.

What was the outcome of the study regarding variant classification rates?

The integration of the study results into a classification model resulted in a 91% classification success rate for BRCA2 variants.

How does Ambry Genetics contribute to the field of genetic testing?

Ambry Genetics leads in clinical genomic testing, focusing on providing data-driven insights to enhance patient care and inform healthcare decisions.

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