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LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

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References

  1. Dworkin AM, Spearman AD, Stephanie YT et al. (2009) Methylation not a frequent “second hit” in tumors with germline BRCA mutations. Fam Cancer doi:10.1007/s10689-009-9240-1 (in press)

  2. Osorio A, de la Hoya M, Rodriguez-Lopez R et al (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305–309

    Article  CAS  PubMed  Google Scholar 

  3. Chenevix-Trench G, Healey S, Lakhani S et al (2006) Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 66:2019–2027

    Article  CAS  PubMed  Google Scholar 

  4. Osorio A, Milne RL, Honrado E et al (2007) Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. Hum Mutat 28:477–485

    Article  CAS  PubMed  Google Scholar 

  5. Beristain E, Martínez-Bouzas C, Guerra I et al (2007) Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counseling. Breast Cancer Res Treat 106(2):255–262

    Article  CAS  PubMed  Google Scholar 

  6. Beristain E, Martínez-Bouzas C, Mallabiabarrena G et al (2009) Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes?: a small population-based study. Clin Genet 75(6):576–578

    Article  CAS  PubMed  Google Scholar 

  7. Human Genome Variation Society (HGVS): http://www.hgvs.org

  8. Breast Cancer Information Core (BIC): http://www.research.nhgri.nih.gov/bic/

  9. Spurdle AB, Lakhani SR, Healey S et al (2008) Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis—a report from the kConFab Investigators. J Clin Oncol 26(10):1657–1663

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Molecular Genetics Laboratory, Department of Biochemistry, Hospital de Cruces, Pza. de Cruces s/n, 48903, Barakaldo, Bizkaia, Spain

    E. Beristain & M. I. Tejada

  2. Department of Pathology, Hospital de Txagorritxu, Vitoria, Spain

    I. Guerra

  3. Department of Pathology Service, Hospital de Cruces, Barakaldo, Spain

    N. Vidaurrazaga & J. Burgos-Bretones

Authors
  1. E. Beristain
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  2. I. Guerra
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  3. N. Vidaurrazaga
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  4. J. Burgos-Bretones
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  5. M. I. Tejada
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Corresponding author

Correspondence to M. I. Tejada.

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Beristain, E., Guerra, I., Vidaurrazaga, N. et al. LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not. Familial Cancer 9, 289–290 (2010). https://doi.org/10.1007/s10689-009-9318-9

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  • DOI: https://doi.org/10.1007/s10689-009-9318-9

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