The number of women identified as carrying a pathogenic variant increased with panel testing when compared with BRCA testing alone, a recent study found. A total of 35,409 women with a single diagnosis of breast cancer (BC) who underwent clinical genetic testing with a 25-gene panel were included in the analysis. The frequency and distribution of PVs were assessed for the overall cohort, among women with triple-negative BC (TNBC) (n=4,797), and by age at diagnosis. Researchers found:
- PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2.
- PV prevalence in BRCA1, PALB2, BRCA1-associated RING domain 1 (BARD1), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and RAD51 paralog C (RAD51C) was statistically higher among women with TNBC.
- PV rate was higher among women aged <40 years, lower among women aged >59 years, and relatively constant among women diagnosed between 40-59 years.
Buys SS, Sandbach JF, Gammon A, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. [Published online ahead of print January 13, 2017]. Cancer. doi:10.1002/cncr.30498.