Germline testing in Breast Cancer impacts patients

In one of the largest Indian study which included germline sequences of 479 unselected Indian patients with breast cancer . Pathogenic or likely pathogenic variants were identified in 24.6% of the cohort, including 8.35% in BRCA1/2. Notably, 67% of these findings were in non-BRCA genes, including HRR and tumor suppressor genes, which would be missed by BRCA-only testing. Beyond cancer risk, medically actionable secondary findings were detected in 21.7% of individuals, with variants in non-oncology genes listed in ACMG SF v3.2. This study suggests germline testing enables more accurate risk assessment, personalized therapeutic decisions, and the implementation of preventive interventions in genetically diverse populations.

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