JAMA Oncology Publishes Ambry’s Results Detailing Genes Associations with Hereditary Breast and Ovarian Cancer

August 16, 2018

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

The AmbryShare project produced innovative research that may identify more at-risk women

(Aliso Viejo) August 16, 2018 – Ambry Genetics Corporation (“Ambry”), a leader in high quality genetic testing, announced their research was published today in JAMA Oncology, identifying new and confirming known hereditary breast and ovarian cancer candidate genes in the largest exome study ever conducted.

Every year hereditary breast cancer affects more than 20,000 women while hereditary ovarian cancer affects more than 6,000 women. Since the discovery of the BRCA1 and BRCA2 genes over 20 years ago, progress in establishing and confirming gene associations with hereditary breast and ovarian cancer has been slow. Major obstacles include limited access to large numbers of relevant samples, sequencing expertise, data sharing and financial resources. The understanding of the genetic component of these cancers has a direct impact on the ability to effectively identify patients susceptible to cancer.

Ambry’s findings were based on a large-scale exome sequencing study of more than 11,400 hereditary breast and ovarian cancer patients from over 1200 clinics and nearly 4000 controls.  The study confirmed that PALB2, ATM and CHEK2 significantly increase breast cancer risk and identified the Lynch Syndrome susceptibility gene MSH6 as a new candidate gene for breast cancer. In ovarian cancer, both ATM and MSH6 were found to be associated with increased risk along with the well characterized ovarian cancer predisposition genes RAD51C and TP53. Some previously reported associations were not able to be confirmed in the study such as the association of the MRN complex genes and CDKN2A with increased breast or ovarian cancer risk. Likewise, results could not confirm a significant breast cancer association with the ovarian cancer susceptibility genes BRIP, RAD51C, RAD51D, MSH2 and PMS2.

The AmbryShare project highlights the value of large, high resolution, phenotype specific data sets. In addition to providing evidence for reported but unconfirmed candidate genes the study was able to identify novel gene associations with breast and ovarian cancer. These results provide further insight into the genomic landscape of hereditary breast and ovarian cancer and will aid in improving the molecular diagnosis of these patients. AmbryShare was conceived to promote and inspire widespread data sharing, and inform comprehensive genetic testing and clinical practice. Learn more about AmbryShare https://share.ambrygen.com/