Myriad’s Polygenic Risk Score Personalizes Risk of Breast Cancer

Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced that results of a new validation study of the company’s polygenic risk score (PRS) for breast cancer were presented at the 2019 San Antonio Breast Cancer Symposium (SABCS) in San Antonio, Tx.  The key finding is that the PRS significantly improves the precision and accuracy of breast cancer risk estimates for women of European ancestry who have pathogenic variants (PV) in high- and moderate-penetrance breast cancer genes.

“Our goal is to help women understand their risk of breast cancer so that they can take steps to live longer, healthier lives.  Women who have a family history of breast cancer should consider hereditary cancer testing with the myRisk Hereditary Cancer test,” said Jerry Lanchbury, Ph.D., chief scientific officer of Myriad Genetics.  “In this landmark study, we demonstrated that for women who test positive for a mutation in one of the five most common breast cancer genes, there are additional genetic factors called single nucleotide polymorphisms (SNPs) that can further influence their lifetime risk of breast cancer.”

Myriad Poster Presentation
Title:  Polygenic Breast Cancer Risk Modification in Carriers of High and Intermediate Risk Gene Mutations.
Presenter:  Elisha Hughes, Ph.D.
Date:  Saturday, Dec. 14, 2019, 7:00–9:00 a.m.
Location:  Poster P6-08-07

This validation study evaluated the 86-SNP PRS as a breast cancer risk factor for women who carry PV in the BRCA1, BRCA2, CHEK2, ATM and PALB2 genes and for PV-free women.  The analysis included data from 152,012 women of European ancestry who received a myRisk^® Hereditary Cancer test as part of their clinical hereditary cancer risk assessment.  The results demonstrated that the 86-SNP PRS significantly modified the breast cancer risk for women with pathogenic mutations in the five tested breast cancer genes (p-value <10^-4).  For some women, the PRS significantly increased the gene-based risk of breast cancer, while in others the gene-based risk was reduced (see Graph 1).  Importantly, the greatest PRS risk-modification was observed in carriers of CHEK2, ATM and PALB2 mutations with some women reaching the risk levels associated with BRCA1 and BRCA2 mutations.

https://www.marketscreener.com/MYRIAD-GENETICS-INC-10141/news/Myriad-s-Polygenic-Risk-Score-Personalizes-Risk-of-Breast-Cancer-for-Woman-with-a-Genetic-Mutation-i-29729815/