Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2
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DOI: 10.1038/jhg.2017.5
Abstract: Genetic testing for breast cancer predisposing genes, BRCA1 and BRCA2, can take advantage for early identification of carriers with pathogenic germline mutations. However, conventional approaches based on Sanger sequencing are laborious and expensive. Next-generation sequencing… read more here.
Keywords: mutations brca1; cost; brca1 brca2; throughput sequencing ... See more keywords
BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents
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DOI: 10.3390/medicina58121818
Abstract: Background: Reversion mutations in BRCA1/2, resulting in restoration of the open reading frame, have been identified as a mechanism of resistance to platinum-based chemotherapy or PARP inhibition. We sought to explore the incidence of BRCA1/2… read more here.
Keywords: reversion mutations; brca1 reversion; reversion; mutations brca1 ... See more keywords