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Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan

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Abstract

Pathogenic germ line mutations in the BRCA1 and BRCA2 genes confer elevated risk of breast and ovarian cancer in females and have a link with variety of cancers other than breast cancer in males. Here we report the first case of a 45-year-old Pakistani male with renal cell carcinoma who was identified to harbor a disease-associated BRCA1 germ line mutation, 2080insA. Detailed description of the family history, clinical presentation and histopathological features of the renal cell carcinoma are presented.

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Fig. 1

Abbreviations

RCC:

Renal cell carcinoma

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Acknowledgments

This work was supported by the Deutsches Krebsforschungszentrum, Heidelberg, Germany and the Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

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Authors and Affiliations

  1. Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan

    Muhammad U. Rashid, Sidra Gull, Saima Faisal, Saba Khaliq, Kashif Asghar & Neelam Siddiqui

  2. Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany

    Muhammad U. Rashid & Ute Hamann

  3. Human Genetics and Molecular Biology Department, University of Health Sciences, Lahore, Pakistan

    Muhammad U. Rashid

  4. Blumenthal Cancer Centre, Carolinas Medical Centre, Charlotte, CA, USA

    Asim Amin

Authors
  1. Muhammad U. Rashid
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  2. Sidra Gull
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  3. Saima Faisal
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  4. Saba Khaliq
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  5. Kashif Asghar
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  6. Neelam Siddiqui
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  7. Asim Amin
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  8. Ute Hamann
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Corresponding author

Correspondence to Ute Hamann.

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Rashid, M.U., Gull, S., Faisal, S. et al. Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan. Familial Cancer 10, 709–712 (2011). https://doi.org/10.1007/s10689-011-9467-5

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