FREQUENCY OF BRCA MUTATIONS IN BREAST CANCER PATIENTS: EXPERIENCE FROM SHIFA INTERNATIONAL HOSPITAL, PAKISTAN: A DESCRIPTIVE CROSS-SECTIONAL STUDY

Zafar Ali; Mahwish Niaz; Asif Masood; Nadira Mamoon; Ayesha Rahat

doi:10.46903/gjms/23.4.Suppl.2037

FREQUENCY OF BRCA MUTATIONS IN BREAST CANCER PATIENTS: EXPERIENCE FROM SHIFA INTERNATIONAL HOSPITAL, PAKISTAN: A DESCRIPTIVE CROSS-SECTIONAL STUDY

Zafar Ali, Mahwish Niaz, Asif Masood, Nadira Mamoon, Ayesha Rahat

Abstract

Background: Breast cancer in Pakistan includes 5–10% hereditary cases linked to BRCA1/2 mutations. This study aimed to identify BRCA1/2 mutations and their variants in breast cancer patients and assess their association with clinical and histopathological features for improved personalized care.

Materials & Methods: This retrospective study at Shifa International Hospital analyzed 123 breast carcinoma cases tested for BRCA1/2 mutations over 5.5 years. Data were evaluated using SPSS 26, applying descriptive statistics, Chi-square, and Fisher’s exact tests ([P < .05 significant]).

Results: BRCA positivity was detected in 13% ([n=16]), with BRCA1 in 8.9% ([n=11]) and BRCA2 in 4.1% ([n=5]). All cases had invasive breast carcinoma of no special type. Family history was reported in eight BRCA1 and two BRCA2 cases. Consanguinity was found in seven BRCA1 and two BRCA2 cases, showing a significant association for BRCA1 ([P=.037]). The most common molecular subtype was triple-negative in BRCA1 and HER2-neu overexpressed in BRCA2. Nonsense mutations were predominant in both genes. Class 1 pathogenic variants were found in nine BRCA1 and four BRCA2 cases, while class 2 variants were seen in two BRCA1 and one BRCA2 case. Two BRCA1-positive patients shared the c.5566C>T mutation. Mutation type ([P=.001]) and gene variant ([P=.001]) were significant for both genes.

Conclusions: BRCA mutations were detected in 13% of cases, with BRCA1 more prevalent than BRCA2. Nonsense mutations were most common, and consanguinity was significantly associated with BRCA1 positivity.

Keywords

Breast; Cancer; Consanguinity; Features; Gene; Mutation.

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DOI: https://doi.org/10.46903/gjms/23.4.Suppl.2037