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Article

Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation

  • Authors:
    • Petra Škerl
    • Mateja Krajc
    • Ana Blatnik
    • Srdjan Novaković
  • View Affiliations / Copyright

    Affiliations: Department of Molecular Diagnostics, Institute of Oncology Ljubljana, 1000 Ljubljana, Slovenia, Cancer Genetics Clinic, Institute of Oncology Ljubljana, 1000 Ljubljana, Slovenia
  • Pages: 279-282
    |
    Published online on: June 6, 2017
       https://doi.org/10.3892/or.2017.5703
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Abstract

Allogenic bone marrow transplant recipients represent a unique challenge, when they are referred for genetic testing and counseling. When performing genetic testing, it is extremely important to ensure that the detected DNA mutations originate from the patients own DNA, and therefore the most appropriate and reliable biological sample for DNA isolation must be obtained. The aim of the present study was to present the germline testing and counseling approach utilized in a rare case of a chimeric woman who received an allogenic bone marrow transplant from a sibling with a germline BRCA1 pathogenic mutation. According to our results, hairs with follicles are a reliable and ready source of DNA in a patient whose blood is of allogenic bone marrow transplant donor origin. Compared with a fibroblast culture, which is more difficult to obtain, the hair follicles are much more accessible and hair sampling is less invasive for the patient. Genetic testing based on the other sources of DNA, such as buccal swabs, is questionable due to the known risk of donor DNA contamination.
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Copy and paste a formatted citation
Spandidos Publications style
Škerl P, Krajc M, Blatnik A and Novaković S: Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation. Oncol Rep 38: 279-282, 2017.
APA
Škerl, P., Krajc, M., Blatnik, A., & Novaković, S. (2017). Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation. Oncology Reports, 38, 279-282. https://doi.org/10.3892/or.2017.5703
MLA
Škerl, P., Krajc, M., Blatnik, A., Novaković, S."Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation". Oncology Reports 38.1 (2017): 279-282.
Chicago
Škerl, P., Krajc, M., Blatnik, A., Novaković, S."Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation". Oncology Reports 38, no. 1 (2017): 279-282. https://doi.org/10.3892/or.2017.5703
Copy and paste a formatted citation
x
Spandidos Publications style
Škerl P, Krajc M, Blatnik A and Novaković S: Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation. Oncol Rep 38: 279-282, 2017.
APA
Škerl, P., Krajc, M., Blatnik, A., & Novaković, S. (2017). Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation. Oncology Reports, 38, 279-282. https://doi.org/10.3892/or.2017.5703
MLA
Škerl, P., Krajc, M., Blatnik, A., Novaković, S."Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation". Oncology Reports 38.1 (2017): 279-282.
Chicago
Škerl, P., Krajc, M., Blatnik, A., Novaković, S."Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation". Oncology Reports 38, no. 1 (2017): 279-282. https://doi.org/10.3892/or.2017.5703
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