Pathway Genomics Corporation, a San Diego-based CLIA- and CAP-accredited clinical laboratory that offers genetic testing services globally, has launched the BreastTrue High Risk Panel, a blood or saliva next-generation sequencing test with deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2, and PALB2.
Recent studies of breast cancer survivors have shown that approximately 70 percent of the mutations identified were BRCA1/2mutations. Approximately four percent had germline mutations in other cancer-susceptibility genes, including high-risk genes. These additional high-risk genes include CDH1, PALB2, PTEN, STK11, andTP53. Pathway Genomics’ BreastTrue High Risk Panel analyzes all of these genes.
Conditions such as Li-Fraumeni, Cowden, Peutz-Jeghers, and hereditary diffuse gastric cancer (HDGC) syndromes have been associated with a significantly increased risk for breast cancer, and genetic testing of the genes associated with these conditions (i.e.,TP53, PTEN, STK1, and CDH1) has been an important part of the clinical management of patients with a family history of breast cancer. Most recently, a large study published in the New England Journal of Medicine also affirmed mutations in the PALB2 gene as important contributors to breast cancer risk.
In addition to releasing BreastTrue High Risk Panel, Pathway has also enhanced its existing BRCATrue test to include single site, reflex testing, and BRCATrue Ashkenazi Jewish (3-site). The addition of reflex testing allows clinicians to appropriately utilize panel testing without creating unnecessary costs for patients and insurance companies. Learn more about BreastTrue High Risk Panel with PALB2.
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