References
Schouten JP, McElgunn CJ, Waaijer R et al (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acid Res 30:e57
Hartmann C, John AL, Klaes R et al (2004) Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 24:534
Bunyan DJ, Eccles DM, Sillibourne J et al (2004) Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 91:1155–1159
de la Hoya M, Gutiérrez-Enríquez S, Velasco E et al (2006) Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem 52:1480–1485
Montagna M, Dalla Palma M, Menin C et al (2003) Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12:1055–1061
Woodward AM, Davis TA, Silva AG et al (2005) Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42:e31
Hendrickson BC, Pruss D, Lyon E, Scholl T (2003) Application of haplotype pair analysis for the identification of hemizygous loci. J Med Genet 40:346–347
Ward BD, Hendrickson BC, Judkins T et al (2005) A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotypes pair analysis and gene amplification with widely dispersed primer sets. J Mol Diagn 7:139–142
Tancredi M, Sensi E, Cipollini G et al (2004) Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion. Eur J Hum Genet 12:775–777
Shattuck-Eidens D, Oliphant A, McClure M et al (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278:1242–1250
Konstantopoulou I, Kroupis CH, Ladopoulou A et al (2000) BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat 16:272–273
Acknowledgments
Performing of array-CGH method was supported by the grant of MSM0021622415. The MLPA analysis was partially supported by the Grant Agency VEGA (Project No.2/5131/26). We thank to Rebecca Doherty for help with the manuscript.
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Konecny, M., Zavodna, K., Vranova, V. et al. Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques. Breast Cancer Res Treat 109, 581–583 (2008). https://doi.org/10.1007/s10549-007-9670-0
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DOI: https://doi.org/10.1007/s10549-007-9670-0