Article
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
Breast cancer research and treatment - 1 Aug 2010
del Valle Jesús, Feliubadaló Lídia, Nadal Marga, Teulé Alex, Miró Rosa, Cuesta Raquel, Tornero Eva, Menéndez Mireia, Darder Esther, Brunet Joan, Capellà Gabriel, Blanco Ignacio, Lázaro Conxi
Abstract excerpt
Large genomic rearrangements are estimated to account for approximately 5-10% of all disease-causing mutations in BRCA1 and BRCA2 genes in patients with hereditary breast and ovarian cancer syndrome (HBOC). We use MRC-Holland Multiplex Ligation-dependent Probe Amplification (MLPA) to screen for such rearrangements in patients with HBOC and as a first step in our genetic testing workflow. The technique was applied...
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