Chasing the origin of 23 recurrent BRCA1 mutations in Pakistani breast and ovarian cancer patients.

Abstract excerpt

Knowledge of population specific BRCA1/2 founder mutations provides a valuable and cost-effective genetic testing strategy. Twenty-three recurrent BRCA1 mutations have been identified previously in 100 Pakistani breast and/or ovarian cancer families. These accounted for 72.5% of all BRCA1 mutations identified. In our study, we investigated whether these mutations (identified in ≥2 unrelated patients) have a...

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