Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
作者： Jesús Del Valle , Lídia Feliubadaló , Marga Nadal , Alex Teulé , Rosa Miró
DOI: 10.1007/S10549-009-0613-9
关键词: Multiplex ligation-dependent probe amplification 、 Point mutation 、 Gene rearrangement 、 Biology 、 Breakpoint 、 Gene duplication 、 Human genome 、 Genetics 、 Gene 、 Genetic testing
摘要: Large genomic rearrangements are estimated to account for approximately 5-10% of all disease-causing mutations in BRCA1 and BRCA2 genes patients with hereditary breast ovarian cancer syndrome (HBOC). We use MRC-Holland Multiplex Ligation-dependent Probe Amplification (MLPA) screen such HBOC as a first step our genetic testing workflow. The technique was applied set 310 independent detected eight different copy number alterations, corresponding 2.6% the studied samples. MLPA also found identify point located probe sequences. As commercial tests not suitable determining specific breakpoints or defining exact extent rearrangements, we complementary techniques characterize these alterations greater precision. Long-range PCR amplification, RNA analysis, SNP-array chips, non-commercial probes, FISH analysis were used fully define mechanism each alteration. In BRCA1, six characterized: deletion E22, duplication E9-E24, E16-E23, E1-E13, E1-E2 E1-E2. BRCA2, E15-E16 E1-E24. To best knowledge, this is most comprehensive study nature underlying molecular causes mutational events BRCA1/2 genes.
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