The effect of germline mutations on survival outcomes of breast cancer – Study from a tertiary care center in North India
S. G. Nithin, Prabhat Gautam Roy, Raja Pramanik, Atul Batra, Kamal Kataria, Ashutosh Mishra, S. V. S. Deo, Surendra Kumar Saini, Daya Nand Sharma, Sandeep Mathur, Chandra Prakash, Pranay Tanwar, Ajay GogiaABSTRACT
Introduction:
The impact of germline pathogenic mutations on survival in breast cancer remains controversial, with studies reporting conflicting results. Despite a relatively higher prevalence of germline mutations in the Indian population, survival data on germline-mutated breast cancer from India are limited.
Methodology:
This single-center observational study included 281 breast cancer patients registered at the breast cancer clinic of the All India Institute of Medical Sciences, New Delhi, who underwent germline mutation testing during treatment. Clinicodemographic, pathological, and treatment-related variables were recorded. Patients with pathogenic germline mutations were classified as cases, while mutation-negative patients served as controls. Patients were followed until May 2023. The primary endpoints were overall survival (OS) and disease-free survival (DFS).
Results:
Of 281 patients, 111 were mutation-positive, most commonly BRCA1 followed by BRCA2, while 170 were mutation negative. Median age was 40 years (range: 38–42 years) in cases and 41 years (range: 40–43 years) in controls. Triple-negative breast cancer was the predominant subtype in both groups, comprising 65.8% of cases and 38.8% of controls. At a median follow-up of 32 months, median OS was not reached in either group (hazard ratio [HR] 0.73; 95% confidence interval [CI] 0.33–1.66;
Conclusion:
Germline pathogenic mutation status was not associated with inferior survival outcomes, suggesting that germline mutations do not independently confer poor prognosis in breast cancer patients.