Ambry Genetics Launches BRCA 1 & 2: Single Genes and NGS Panel Offerings


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Ambry Genetics announced today the launch
of BRCA1 and BRCA2 analysis as part of their comprehensive cancer-testing menu.
Two genes will be offered as a stand alone test comprising of full gene sequencing and
deletion/duplication analyses in addition to being incorporated as part of multiple
hereditary cancer panels that test cancer susceptibility genes using next-generation
sequencing (NGS) technology. Additionally, Ambry Genetics is excited to launch a new
high-risk hereditary breast cancer panel (BRCAplus) that simultaneously analyzes six
clinically actionable genes: BRCA1, BRCA2, CDH1, PTEN, STK11 and TP53. These
additions complement Ambry’s comprehensive menu of single gene offerings and NGS
multi-gene panels designed for hereditary cancer syndromes.

Ambry Genetics is a CLIA-certified service laboratory specializing in clinical diagnostic
and genomic services with a comprehensive menu of over 300 tests that has offered
NGS-based gene panel testing since 2009. Incorporating BRCA1/2 genes allows Ambry
to expand its testing for hereditary cancer syndromes and thus provide patients with
more comprehensive cancer screening tests.

BRCA1/2 are tumor suppressor genes that have an essential role in both DNA repair
and cell cycle control systems. BRCA1/2 germline mutations are inherited in an
autosomal dominant pattern. When mutated, the genetic alterations affect DNA repair
leading to increased lifetime risk to develop multiple cancers. Germ-line BRCA1/2
mutations are implicated in majority of hereditary breast-ovarian cancer syndrome
(HBOC) cases. In these cases, women carrying a BRCA1/2 mutation have between a
40-80% lifetime risk to develop breast cancer and between a 20-40% lifetime risk to
develop ovarian cancer. Male BRCA mutation carriers have up to a 30-39% lifetime risk
for prostate and a 5-10% lifetime risk for male breast cancer. Cancer risks are further
modified by family history, reproductive choices, lifestyle and environmental factors and
other genetic factors.

“With the launch of BRCA1/2 genetic testing, Ambry Genetics now offers the most
comprehensive suite of hereditary cancer testing available,” said Charles Dunlop, Chief
Executive Officer of Ambry Genetics. “Ambry’s BRCA1/2 testing includes gene
sequence and deletion/duplication analyses at a competitively lower cost and
comparable turn-around time to the laboratory that previously controlled BRCA1/2

Ambry Genetics fully supports awareness and the need for cancer screening of
individuals with a personal or family history of inherited cancer syndromes like HBOC.
While hereditary breast and ovarian cancer accounts for 5-10% of all breast and ovarian
cancer cases, approximately 25-50% of these are due to BRCA1/2 mutation. BRCA1/2
carrier frequency is estimated at 1/400 or 0.2% in the non-Ashkenazi Jewish (AJ)
population. Mutations in the BRCA genes are much more common in individuals of AJ
descent, with a carrier frequency of 1/40 or 2.6%. Establishing a molecular diagnosis of
HBOC then becomes crucial, as it can help guide preventative measures, direct surgical
options and estimate personal and familial cancer risk.

“The relationship between BRCA1/2 and breast cancer risk was not discovered by a
single patent holder, it stood on the shoulders of years of work by our scientific
colleagues. Ambry is a beneficiary of these collaborative efforts of the research
community both in US and worldwide. We have access to tremendous resources for the
classification of BRCA1/2 variants and accurate association with cancer risk,” said
Elizabeth Chao, M.D., Chief Medical Officer at Ambry Genetics. “This provides us with a
strong basis for a variant classification program that will be second to none.”

About Ambry Genetics ®

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

Press Contact:
Aaron Schmidt
Sr Manager, Communications
949 457 4679

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