Ambry Announces Newly Published Data on Hereditary Ovarian Cancer and Multi-Gene Panels


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

Ambry Genetics announces newly published data on hereditary cancer multi-gene panels, in Gynecologic Oncology.  Published in collaboration with physicians at the University of Arizona, “Hereditary Predisposition to Ovarian Cancer, Looking Beyond BRCA1/BRCA2,” highlights important data regarding the role of multi-gene panels in diagnosing hereditary breast and ovarian cancer.

This study analyzed data from 911 BRCA1/2-negative women with a history of breast and/or ovarian cancer who underwent testing with OvaNextTM, a multi-gene panel which currently includes 23 genes associated with hereditary breast, ovarian, and other cancers. Among the key findings, the authors identified an overall mutation rate of 7.4%, doubling the diagnostic yield compared to the expected mutation rate of 5-10% from BRCA1/2 mutation testing alone in similar cohorts.

“Familial risk of breast and ovarian cancer is not solely rooted in BRCA1/2,” said Bradley J. Monk, MD, FACOG, FACS, University of Arizona Cancer Center at St. Joseph’s Hospital and Medical Center. “This paper expands our understanding of the prevalence of the other genes that contribute to hereditary breast and ovarian cancer.”  

This article presents early data regarding moderate penetrance hereditary breast and ovarian cancer genes in a breast and ovarian cancer cohort. Among the ovarian cancer-only cohort, 26% of the mutations identified were in BRIP1 and 19% were in MSH6.  Conversely, in the breast cancer-only cohort, the greatest percentage of mutations were in CHEK2, ATM, and TP53 (34%, 11%, and 11%, respectively), with only 4% of mutations in BRIP1 in breast cancer-only probands. Additionally, data presented in this article demonstrate that testing guidelines for known syndromes, such as Lynch syndrome, are not sufficient to detect all carriers of mutations predisposing to known hereditary cancer syndromes among our cohort of patients, providing additional support for multi-gene panel based testing as opposed to phenotype-driven single gene testing.

“At Ambry Genetics, we take our mission to contribute data to scientific literature seriously, providing information critical to advance the understanding of the implications of genetic testing for treatment options and management of patients,” said Jill S. Dolinsky, Sr. Manager of Clinical Research.  “We are aggressively working with clinicians such as Drs. Monk and Minion to share our data with the medical community, and we look forward to further clarifying the role of hereditary breast and ovarian cancer panel testing in clinical practice.”

About Ambry Genetics ®

Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer the most comprehensive genetic testing menu in the industry. Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to bring about precision medicine. For more information about Ambry Genetics, visit

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Dina Scaglione
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949 457 4355

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