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

Muhammad Usman RashidNoor MuhammadHumaira NaeemiFaiz Ali KhanMariam HassanSaima FaisalSidra GullAsim AminAsif LoyaUte Hamann

Published in: Hereditary cancer in clinical practice (2019)

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.

Keyphrases

early onset
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
risk factors
tertiary care
young adults