Incidence of BRCA Positivity in Young Pakistani Women with Breast Cancer
DOI:
https://doi.org/10.51253/pafmj.v76i5.12316Keywords:
BRCA; Breast Cancer; Pakistan; Early Breast Cancer; High Risk Group; Young womenAbstract
Objective: To determine the incidence of BRCA positivity in young Pakistani women with Breast Cancer at our institution.
Study Design: Retrospective Chart Review.
Place and Duration of Study: Shaukat Khanum Memorial Cancer Hospital and Research Center, Pakistan from Jan 2014 to Jan 2024.
Methodology: Three hundred and forty-nine patients were included in this retrospective chart review. Frequency of BRCA positivity was enumerated across different age groups. Post-stratification chi-square analysis for BRCA positivity with family history, inflammatory breast cancer, grade of tumor, stage 4 at presentation, bilateral breast cancer and tumor biology was done.
Results: 31(8.9%) of patients were BRCA positive and the most common variant was c.3770_3771delAG BRCA 1 mutation in 4 (12.9%) of patients. BRCA positivity was greater in younger women aged 45 or less with 23 (6.59%) women. A positive family history (P=0.003) and bilateral breast cancer (P=0.003) was associated with BRCA positivity. 51.6% of BRCA positive patients had Triple-Negative Disease.
Conclusion: BRCA mutations in Pakistani women population may be the underlying cause of greater proportion of younger women presenting with cancer in the country. Genetic counseling, screening criteria and population-specific guidelines for breast cancer in light of this data is the need of the hour.
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Copyright (c) 2026 Ayesha Ehsan, Vishal Farid Raza, Aun Jamal, Hassan Ahmad, Haroon Anjum, Afroz Mushtaq Khattak
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