A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2
作者： Kevin Cheeseman , Etienne Rouleau , Anne Vannier , Aurélie Thomas , Adrien Briaux
DOI: 10.1002/HUMU.22060
关键词:
摘要: The BRCA1 and BRCA2 genes are involved in breast ovarian cancer susceptibility. About 2 to 4% of patients with positive family history, negative for point mutations, can be expected carry large rearrangements one these two genes. We developed a novel diagnostic genetic test the physical mapping rearrangements, based on molecular combing (MC), FISH-based technique direct visualization single DNA molecules at high resolution. designed specific Genomic Morse Codes (GMCs), covering exons, noncoding regions, genomic portions flanking both validated our approach by testing 10 index cases history 50 controls. Large corresponding deletions duplications sizes ranging from 3 40 kb, were detected characterized genes, including four mutations. nature all identified mutations was confirmed high-resolution array comparative hybridization (aCGH) breakpoints sequencing. GMCs allowed localize several tandem repeat propose as valuable tool screen combined clinical settings an assay capable detecting small
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