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Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer

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Abstract

Purpose

To analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology.

Methods

A population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed for germline mutations in BRCA1 and BRCA2 genes. The methodology relies on a 5 multiplex PCR assay coupled to NGS.

Results

Ten pathogenic mutations (four in BRCA1 and six in BRCA2 gene) were identified in a Spanish population. The deletion c.1792delA, in exon 10, and the duplication c.5869dupA, in exon 11 of BRCA2 gene were not previously reported and should be considered as pathogenic due to its frameshift nature.

Conclusion

Two novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS.

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Conflict of interest

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Authors and Affiliations

  1. Molecular Genetics Unit, Hospital de Terrassa, Ctra.Torrebonica, 08227, Terrassa, Barcelona, Spain

    I. Hernan, B. Mañé, E. Borràs, M. de Sousa Dias, M. J. Gamundi & M. Carballo

  2. Genetic Counseling Unit, Vallès Oncologic Institute, Consorci Sanitari de Terrassa, Barcelona, Spain

    G. Llort & C. Yagüe

  3. Oncology Service, Hospital de Terrassa, Terrassa, Spain

    À. Arcusa

Authors
  1. I. Hernan
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  2. B. Mañé
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  3. E. Borràs
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  4. M. de Sousa Dias
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  5. G. Llort
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  6. C. Yagüe
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  7. M. J. Gamundi
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  8. À. Arcusa
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  9. M. Carballo
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Corresponding author

Correspondence to I. Hernan.

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Hernan, I., Mañé, B., Borràs, E. et al. Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer. Clin Transl Oncol 17, 576–580 (2015). https://doi.org/10.1007/s12094-014-1271-x

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  • DOI: https://doi.org/10.1007/s12094-014-1271-x

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