Spectrum of germline variants in moderate to high penetrance non-BRCA breast cancer susceptibility genes in a Pakistani early-onset cohort.
BACKGROUND Hereditary factors account for a significant lifetime risk of breast cancer. Approximately 20% is attributable to pathogenic variants in the highly penetrant BRCA1/2 of the homologous recombination repair (HRR) pathway. Other HRR pathway genes (ATM, CHEK2, BARD1, TP53) are also linked to breast cancer suscep...