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Background  Pathogenic germline mutations in  BRCA1  and  BRCA2  ( BRCA1/2 ) account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine the spectrum of  BRCA1/2  mutations and to accurately estimate the prevalence of mutation in the Pakistani population, we studied 539 breast cancer patients selected for family history and age of diagnosis.    Methods  Comprehensive screening for  BRCA1/2  germline mutations was performed using state-of-the-art technologies.    Results  A total of 133 deleterious mutations were identified in 539 families (24.7%), comprising 110 in  BRCA1  and 23 in  BRCA2 . The prevalence of  BRCA1/2  small-range mutations and large genomic rearrangements was 55.4% (36/65) for families with breast and ovarian cancer, 27.4% (67/244) for families with two or more cases of breast cancer, 18.5% (5/27) for families with male breast cancer, and 12.3% (25/203) for families with a single case of early-onset breast cancer. Nine mutations were specific to the Pakistani population. Eighteen mutations in  BRCA1  and three in  BRCA2  were recurrent and accounted for 68.2% (75/110) and 34.8% (8/23) of all identified mutations in  BRCA1  and  BRCA2 , respectively. Most of these mutations were exclusive to a specific ethnic group and may result from founder effects.    Conclusions  Our findings show that  BRCA1/2  mutations account for one in four cases of hereditary breast/ovarian cancer, one in five cases of male breast cancer, and one in eight cases of early-onset breast cancer in Pakistan. Our study suggests genetic testing of an extended panel of 21 recurrent  BRCA1/2  mutations for appropriately selected patients and their families in Pakistan.

Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study