Journal: International journal of cancer
This study evaluated the frequency and spectrum of pathogenic/likely pathogenic (P/LP) variants in familial breast cancer (BC) patients from Pakistan using a 14-gene hereditary breast and ovarian cancer panel.
Among 160 familial BC patients previously negative for key gene mutations by conventional testing, next-generation sequencing identified 24 unique P/LP variants across seven genes, with BRCA1 and BRCA2 accounting for the majority.
Overall, combining new and prior data from 263 patients, P/LP variants were detected in 50.2%, predominantly in BRCA1/2 (93.2% of variants).
The study highlights that P/LP variants are concentrated in a limited set of genes and suggests a cost-effective seven-gene panel for genetic risk assessment in familial BC within the Pakistani population:
- ATM
- BRCA1
- BRCA2
- CHEK2
- RAD51C
- PALB2
- TP53