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March-2017 Volume 37 Issue 3

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Case Report

First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report

  • Authors:
    • Guillaume Meynard
    • Laura Mansi
    • Pierre Lebahar
    • Cristian Villanueva
    • Elodie Klajer
    • Fabien Calcagno
    • Adrian Vilalta
    • Marie Chaix
    • Marie-Agnès Collonge-Rame
    • Céline Populaire
    • Marie-Paule Algros
    • Prudence Colpart
    • Julie Neidich
    • Xavier Pivot
    • Elsa Curtit
  • View Affiliations / Copyright

    Affiliations: Department of Medical Oncology, University Hospital, 25000 Besançon, France, Pathway Genomics Corporation, San Diego, CA 92121, USA, Department of Medical Oncology, University Hospital, 21079 Dijon, France, University of Franche-Comté, 25000 Besançon, France
  • Pages: 1573-1578
    |
    Published online on: February 3, 2017
       https://doi.org/10.3892/or.2017.5422
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Abstract

Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.
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Copy and paste a formatted citation
Spandidos Publications style
Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vilalta A, Chaix M, Collonge-Rame M, Populaire C, Populaire C, et al: First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. Oncol Rep 37: 1573-1578, 2017.
APA
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F. ... Curtit, E. (2017). First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. Oncology Reports, 37, 1573-1578. https://doi.org/10.3892/or.2017.5422
MLA
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vilalta, A., Chaix, M., Collonge-Rame, M., Populaire, C., Algros, M., Colpart, P., Neidich, J., Pivot, X., Curtit, E."First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report". Oncology Reports 37.3 (2017): 1573-1578.
Chicago
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vilalta, A., Chaix, M., Collonge-Rame, M., Populaire, C., Algros, M., Colpart, P., Neidich, J., Pivot, X., Curtit, E."First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report". Oncology Reports 37, no. 3 (2017): 1573-1578. https://doi.org/10.3892/or.2017.5422
Copy and paste a formatted citation
x
Spandidos Publications style
Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vilalta A, Chaix M, Collonge-Rame M, Populaire C, Populaire C, et al: First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. Oncol Rep 37: 1573-1578, 2017.
APA
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F. ... Curtit, E. (2017). First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. Oncology Reports, 37, 1573-1578. https://doi.org/10.3892/or.2017.5422
MLA
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vilalta, A., Chaix, M., Collonge-Rame, M., Populaire, C., Algros, M., Colpart, P., Neidich, J., Pivot, X., Curtit, E."First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report". Oncology Reports 37.3 (2017): 1573-1578.
Chicago
Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vilalta, A., Chaix, M., Collonge-Rame, M., Populaire, C., Algros, M., Colpart, P., Neidich, J., Pivot, X., Curtit, E."First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report". Oncology Reports 37, no. 3 (2017): 1573-1578. https://doi.org/10.3892/or.2017.5422
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