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

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

(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
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

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
, 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.


BRCAplus is a next generation sequencing panel of six genes associated
with breast cancer: BRCA1, BRCA2, CDH1, PALB2,
PTEN, 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.


Ambry Genetics is both College of American Pathologists (CAP)-accredited
and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry
leads in clinical genetic diagnostics and genetics software solutions,
combining both to offer the most comprehensive testing menu in the
industry. Ambry has established a reputation for sharing data while
safeguarding patient privacy, unparalleled service, and responsibly
applying new technologies to the clinical molecular diagnostics market.
For more information about Ambry Genetics, visit


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


Ambry Genetics
Humberto Huerta
Director of Marketing