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 a leader in clinical diagnostic and software solutions, combining both to offer comprehensive and high-quality genetic testing. As part of the Konica Minolta family, Ambry Genetics is responsibly applying new technologies to the molecular diagnostics market to bring about precision medicine. With over 20 years of experience, Ambry Genetics has longstanding expertise in clinical genetic testing. For more information about Ambry Genetics, visit

Press Contact:
June Fujimoto

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