The remaining 65 0. Of these 65, 13 0. The remaining 52 0. Uncallable variants would require 15 Sanger sequencing reactions to be resolved Table 2.
The 21st Century Handbook of Clinical Ovarian Cancer | Krishnansu S. Tewari | Springer
The number of total variants is less than the sum of variants from both databases because variants overlap. The assessment of BRCA mutational status in ovarian cancer patients plays a double role. The first is the identification of familial cancer predisposition; the second is to address therapeutic choices. The better response to platinum and the recent approval of PARP-inhibitors for therapy of ovarian cancers harbouring mutations in BRCA genes calls for methods able to detect not only germline but also somatic mutations in these genes.
Genetics in the 21st Century: Implications for patients, consumers and citizens
Molecular tests to analyse BRCA mutations are generally carried out on germline DNA from blood samples to identify hereditary mutations as part of risk assessment programs. However, in order to identify somatic mutations present in neoplastic cells to permit the patient to benefit from drugs such as olaparib, it is necessary to analyze DNA from the tumour tissue.
The analysis of BRCA on diagnostic tissue is complex due to: 1 the type of possible mutations in these genes; 2 the fact that these mutations may be found in any part of these genes which are very large and as such require the entire gene to be sequenced; and 3 the limited quantity and low quality of DNA available from routine diagnostic FFPE tissue is limited. It is therefore important to be able to sequence the entire BRCA genes using minimal amounts of DNA to identify pathogenic mutations relevant to patient treatment.
In this study, we tested a commercially available NGS sequencing panel on small quantities of DNA purified from FFPE tissue to evaluate the use of these technologies for diagnostic applications. A total of 6, A further This was due to the mutations being either inside or in close proximity of homopolymer stretches or PCR amplification artefacts. These could be resolved, however, with 15 Sanger sequencing reactions.
The amendment also addresses the regulatory issue of data protection and disclosure in genomic studies.
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The kit is composed of three multiplex PCR primer pools, and uses 30 nanograms of DNA, ten per primer pool, for multiplex PCR amplification, followed by ligation of a specific barcode-sequence to each sample for identification The quality of the obtained libraries was evaluated by the Agilent Bioanalyzer on-chip electrophoresis Agilent Technologies as previously described [ 35 ]. Data analysis, including alignment to the hg19 human reference genome and variant calling, was done using the Torrent Suite Software v4.
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