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September 10, 2025Genetics ResearchOpen Access

BRCA1 Exon 11 Mutations in Breast Cancer: A Study From Pakistan

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Analysis of BRCA1 mutations reveals early disease onset in breast cancer patients, suggesting urgent genetic screening needs.

The study found a homozygous missense variant in 2 out of 25 samples, indicating potential genetic risk factors for breast cancer.
56% of the breast cancer patients were under the age of 50, suggesting early onset of the disease in this population.
Demographic data shows that 24% of patients reported a positive family history of cancer, highlighting the importance of genetic screening.
Investigation of the identified variant in the ClinVar database showed conflicting interpretations regarding its pathogenicity.

Ali et al. (2025) studied this question.

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