Risks of triple negative breast cancer associated with cancer predisposition gene mutations.

Abstract

1513Background: Multigene panel testing for hereditary cancer includes genes identified as hereditary breast and/or ovarian cancer (HBOC) genes despite limited data regarding the precise cancer risks associated with mutations in these genes. Here we report on risks of breast cancer and separately risks of triple negative breast cancer associated with mutations in 20 predisposition genes. Methods: A cohort of 10,091 individuals with breast cancer, including 2,400 with triple negative breast cancer, were tested for mutations with the BreastNext and OvaNext clinical genetic testing panels. A further 2,100 individuals with triple negative breast cancer were tested for the same genes by custom capture-based sequencing. Case-control analyses were performed comparing the frequencies of pathogenic mutations from Caucasian breast cancer cases with frequencies from Caucasian study matched controls, and Caucasian, non-Finnish, non-TCGA controls from the ExAC database. Results: Pathogenic mutations were identified in...