Ambry Genetics in Collaboration with Mayo Clinic and NorthShore University HealthSystem Announce Important Research Contributing to Breast Cancer Risk Prediction

June 03, 2018

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Ambry’s polygenic risk score (PRS) can provide clinicians with individualized breast cancer risk estimates

(Aliso Viejo) June 3, 2018 – Ambry Genetics Corporation (“Ambry”), providers of high quality genetic testing, in collaboration with the Mayo Clinic and NorthShore University HealthSystem, announced today they are presenting important new data at the American Society of Clinical Oncology, enhancing our ability to predict a woman’s risk for breast cancer, thereby allowing better medical management. These scientific findings are to be presented by Celine Vachon, PhD (Mayo Clinic) at an oral presentation on June 3 in Chicago.

More than 268,000 individuals will be diagnosed with breast cancer this year with and approximately 10% of the time it is hereditary, related to genes such as BRCA1/2. However, other clinical factors and common genetic variants can also impact a woman’s lifetime risk for breast cancer. The most common type of human genetic variation is due to single nucleotide polymorphisms or SNP. Many SNPs have been shown to be associated with breast cancer risk; therefore a risk score based on certain combinations of SNPs may have predictive value for determining breast cancer risk.  It is currently unknown whether such a score will be predictive in a population known to be at high risk.

In this study, 100 SNPs were used to calculate a polygenic risk score (PRS) in high-risk Caucasian women referred for genetic testing. Study findings validated the 100-SNP PRS as a risk predictor for breast cancer in this high-risk population. These results suggest that the combination of clinical risk factors and this PRS will improve a woman’s individualized remaining lifetime breast cancer risk estimate, which then can be considered when making medical management recommendations.  Ambry Genetic will also be hosting booth #13126 and presenting additional research you can find here.

“Our goal is to give healthcare providers the most comprehensive and accurate tools,” said Brigette Tippin Davis, Ph.D., FACMG, Vice President, Research & Development at Ambry Genetics. “It is our mission to help clinicians clearly identify patients with an increased risk for cancer, so that appropriate action can be taken.”