Ambry Genetics introduces BRCA1 and BRCA2 analysis

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.

“With the launch of BRCA1/2 genetic testing, Ambry Genetics now offers the most comprehensive suite of hereditary cancer testing available”

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 analysis."

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."


The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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