Ambry Genetics Unveils Comprehensive Educational Resource Supporting People with Hereditary Breast and Ovarian Cancer 

October 05, 2015


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

In honor of Breast Cancer Awareness Month, Ambry launches two major initiatives

Aliso Viejo, CA – October 5, 2015 – Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, today announced the launch of a new educational resource for patients and families affected by hereditary breast and ovarian cancer (HBOC). The website,, provides people with a number of resources to learn more about genetics, hereditary cancer, and genetic testing, as well as tools to assess their own risk, construct their family’s medical health history, and kick-start a conversation with their healthcare provider.

According to the National Cancer Institute, breast cancer is the second leading cause of cancer death among women in the U.S. About 10 percent of breast cancer cases are thought to be related to an inherited gene mutation. There are several potential mutations that increase a person’s risk of breast cancer, and which are included in Ambry’s multi-gene diagnostic test, BRCAplus. The BRCAplus test includes BRCA1, BRCA2, CDH1, PTEN, TP53, and now the PALB2 gene. Recent research has shown the risk of breast cancer is two to four times higher in people with a PALB2 gene mutation, making the gene an important player. The addition of the PALB2 gene to the BRCAplus test will provide a broader assessment of breast cancer risk; however, it will not change Ambry’s turnaround time or the price of the multi-gene test.

“As a company built by scientists, genetic counselors and physicians, Ambry is deeply committed to supporting quality patient care, through our comprehensive menu of diagnostic tests and educational resources such as our newly-launched patient website,” said Charles Dunlop, Chief Executive Officer, Ambry. “At Ambry, we strive to be a trusted partner and resource in genetics. That is why we are continually examining the scientific literature to identify emerging genetic markers so that, when appropriate, we can responsibly adjust our diagnostic tests. Our newly enhanced BRCAplus test and online resource represent this commitment to providing clinicians and their patients with the best information available.”

Working collaboratively with medical experts, including genetic counselors, and advocacy groups, Ambry created the online resource for patients and families who want to learn more about hereditary cancer and understand their potential risk. They can determine if they may have an increased cancer risk and should seek a referral to a cancer genetics specialist with the Hereditary Cancer Risk Indicator. The site also includes easy-to-read information and informative videos, and resources such as the Family Health History Tool. This tool, powered by Progeny Genetics, allows patients to complete a pedigree for a more productive discussion with a healthcare provider. “As a company, we wanted to remove the emphasis on genetic testing and focus on the education and resources patients and their families need before, during, and after their cancer journey,” said Michelle Jackson, MS, CGC, Genetic Counselor and HBOC Product Manager, Ambry.

For more details on Ambry’s other initiatives in support of Breast Cancer Awareness Month, please visit here.

About BRCAplus

BRCAplus is a next generation sequencing panel of six genes associated with breast cancer: BRCA1BRCA2CDH1PALB2PTEN, and TP53. These six genes are associated with hereditary cancer syndromes – hereditary breast and ovarian cancer (HBOC), hereditary diffuse gastric cancer, hereditary breast and pancreatic cancer, Cowden syndrome, and Li-Fraumeni syndrome – all of which have published management guidelines. Identification of a mutation in one of these genes can help estimate cancer risk and guide treatment, screening, and/or prevention decisions for the patient. Family members can be tested for a familial mutation to determine if they have high risk (positive for the familial mutation) or average risk (negative for the familial mutation) for cancer.


Progeny is a subsidiary of Ambry Genetics. For over 15 years, Progeny has increasingly enhanced the technology required to manage all types of genetic data. Whether it be related to pedigrees, providing genotype management and analysis, or providing a full LIMS system, Progeny is committed to bring solutions to the table for the customers we serve today. For more information, visit

About Ambry Genetics ®

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

Media Contact
Brad Lotterman
Communications Director

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