Volume 119, Issue 12 pp. 2832-2839
Cancer Genetics

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients

Muhammad U. Rashid

Muhammad U. Rashid

Division of Molecular Genome Analysis, Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan

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Anbreen Zaidi

Anbreen Zaidi

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan

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Diana Torres

Diana Torres

Division of Molecular Genome Analysis, Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany

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Faisal Sultan

Faisal Sultan

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan

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Axel Benner

Axel Benner

Division of Molecular Genome Analysis, Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany

Central Unit Biostatistics, German Cancer Research Center, Heidelberg, Germany

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Bilal Naqvi

Bilal Naqvi

Marshfield Clinic Regional Cancer Center, Eau Claire, USA

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Abdul R. Shakoori

Abdul R. Shakoori

School of Biological Sciences, Punjab University, Lahore, Pakistan

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Antje Seidel-Renkert

Antje Seidel-Renkert

Division of Molecular Genome Analysis, Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany

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Humirah Farooq

Humirah Farooq

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan

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Steven Narod

Steven Narod

Centre for Research in Women's Health, University of Toronto, Toronto, Canada

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Asim Amin

Asim Amin

Blumenthal Cancer Center, Carolinas Medical Center, Charlotte, USA

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Ute Hamann

Corresponding Author

Ute Hamann

Division of Molecular Genome Analysis, Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany

Fax: 0049/6221/42-4721

German Cancer Research Center, Division of Molecular Genome Analysis, Im Neuenheimer Feld 580, 69120 Heidelberg, GermanySearch for more papers by this author
First published: 26 October 2006
Citations: 90

Abstract

Among Asian countries, Pakistan has the highest rates of breast and ovarian cancer. To assess the contribution of the BRCA1 and BRCA2 germ line mutations to these high rates, we conducted the first study of 176 Pakistani breast and ovarian cancer patients, selected on family history and on age of diagnosis. Comprehensive BRCA mutation screening was performed using a range of techniques, including denaturing high-pressure liquid chromatography, single strand conformational polymorphism analysis and protein truncation test, followed by DNA sequencing. Thirty deleterious germ-line mutations were identified in the 176 families (17.0%), including 23 in BRCA1 and 7 in BRCA2. Four mutations, 185delAG, 185insA, S1503X and R1835X, were recurrent; these accounted for 52% of all identified BRCA1 mutations. Haplotype analyses suggested founder effects for 3 of these. The prevalence of BRCA1 or BRCA2 mutations was 42.8% for families with multiple cases of breast cancer, and was 50.0% for the breast/ovarian cancer families. The prevalence of mutations was 11.9% for single cases of early-onset breast cancer (≤30 years) and was 9.0% for single cases of early-onset ovarian cancer (≤45 years). Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer and early-onset breast and ovarian cancer cases in Pakistan. © 2006 Wiley-Liss, Inc.

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