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Research By Ambry Genetics Expands Links To Breast, Ovarian Cancer Risk

By Ron Shinkman, Editor, Laboratory Industry Report Ambry Genetics, the California-based clinical laboratory, has published data concluding that the genetic risk to breast and ovarian cancer is not confined solely the BRCA gene. BRCA testing has been the gold standard for gauging an individual patient’s risk for developing either breast or ovarian cancer, and a 2013 U.S. Supreme Court decision invalidating patents on single genes has opened up the market for BRCA testing considerably. Ambry’s research, which was conducted in conjunction with researchers at the University of Arizona and published in the journal Gynecologic Oncology, detected a fairly strong correlation among those at risk for ovarian cancer and the genes BRIP1 and MSH6. About 26 percent of those at risk also had BRIP1 mutations, and 19 percent were linked to mutations in MSH6. Among the cohort of test subjects who were at risk for breast cancer, 34 percent had mutations in the CHEK2, while 11 percent had mutations linked to either the ATM or TP53 genes. “Familial risk of breast and ovarian cancer is not solely rooted in BRCA1/2,” said Bradley J. Monk, M.D. of the University of Arizona Cancer Center at St. Joseph’s Hospital and Medical Center, one of […]

By Ron Shinkman, Editor, Laboratory Industry Report

Ambry Genetics, the California-based clinical laboratory, has published data concluding that the genetic risk to breast and ovarian cancer is not confined solely the BRCA gene.

BRCA testing has been the gold standard for gauging an individual patient’s risk for developing either breast or ovarian cancer, and a 2013 U.S. Supreme Court decision invalidating patents on single genes has opened up the market for BRCA testing considerably.

Ambry’s research, which was conducted in conjunction with researchers at the University of Arizona and published in the journal Gynecologic Oncology, detected a fairly strong correlation among those at risk for ovarian cancer and the genes BRIP1 and MSH6. About 26 percent of those at risk also had BRIP1 mutations, and 19 percent were linked to mutations in MSH6. Among the cohort of test subjects who were at risk for breast cancer, 34 percent had mutations in the CHEK2, while 11 percent had mutations linked to either the ATM or TP53 genes.

“Familial risk of breast and ovarian cancer is not solely rooted in BRCA1/2,” said Bradley J. Monk, M.D. of the University of Arizona Cancer Center at St. Joseph’s Hospital and Medical Center, one of the paper’s authors. “This paper expands our understanding of the prevalence of the other genes that contribute to hereditary breast and ovarian cancer.”

The study concluded that a future multi-gene testing panel would likely be a more accurate predictor of the risk of patients developing breast or ovarian cancer. Ambry has not announced whether it would launch such a panel.

“We are aggressively working with clinicians such as Dr. Monk to share our data with the medical community, and we look forward to further clarifying the role of hereditary breast and ovarian cancer panel testing in clinical practice,” said Jill S. Dolinsky, Ambry’s senior manager of clinical research.