Axis Journal of Medical and Biosocial Sciences (AJMBS)

FREQUENCY OF GERMLINE BRCA1/BRCA2 PATHOGENIC VARIANTS IN EARLY-ONSET TRIPLE-NEGATIVE BREAST CANCER: A SINGLE-CENTER OBSERVATIONAL ANALYSIS

Authors

  • Abdul Sami Shaikh

    Author

  • Shabahat Arain

    Author

Keywords:
BRCA1, BRCA2, Breast Neoplasms, Genetic Testing, Germ-Line Mutation, Triple-Negative Breast Neoplasms, Young Adult
Abstract

Background: Triple-negative breast cancer (TNBC) is an destructive sub-type, commonly changing younger women and often linked with BRCA1 and BRCA2 germline mutations. Timely identification of these mutations offers critical opportunities for personalized treatment and preventive strategies.

Objective: To determine the occurrence of BRCA1 and BRCA2 changes in younger women diagnosed with TNBC.

Methods: A descriptive cross-sectional study was managed over six months at single hospital in Lahore. A total of 300 women aged 18–40 years with confirmed TNBC were enrolled. BRCA1 and BRCA2 mutations were assessed using next-generation sequencing. Demographic, clinical, and pathological data were collected. Statistical analysis was conducted using SPSS v25 with appropriate parametric tests.

Results: Of the 300 participants, 78 (26.0%) had pathogenic BRCA mutations—61 (20.3%) in BRCA1 and 17 (5.7%) in BRCA2. Higher mutation prevalence was observed in younger age groups, high-grade tumors, and those with a family description of cancer. BRCA1 mutations were most frequent among patients aged 18–30 years (28.0%). Mutation rates were also higher in stage III (32.4%) and grade III (30.2%) tumors.

Conclusion: The extreme occurrence of BRCA mutations in this cohort reinforces the prominence of universal BRCA testing in young TNBC patients, irrespective of family history. These findings advocate for the integration of genetic testing into standard cancer care pathways to guide therapy and prevention.

Author Biographies
  1. Abdul Sami Shaikh

    Professor, Department of Pharmacy, Shah Abdul Latif University Khairpur Sindh, Pakistan.

  2. Shabahat Arain

    PhD Scholar, Department of Zoology, University of Sindh Jamshoro, Pakistan.

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Axis Journal of Medical and Biosocial Sciences
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Published
2025-11-30
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Vol. 2 No. 2 (2025): Axis Journal of Medical and Biosocial Sciences (AJMBS)
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Copyright (c) 2025 Abdul Sami Shaikh, Shabahat Arain (Author)

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FREQUENCY OF GERMLINE BRCA1/BRCA2 PATHOGENIC VARIANTS IN EARLY-ONSET TRIPLE-NEGATIVE BREAST CANCER: A SINGLE-CENTER OBSERVATIONAL ANALYSIS. (2025). Axis Journal of Medical and Biosocial Sciences, 2(2), 54-66. https://axisjmbs.com/index.php/home/article/view/25