A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

Clin Chim Acta. 2018 May:480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.
No abstract available

Keywords: BRCA1/2; Breast cancer; Large genomic rearrangements; Mutations detection; Next generation sequencing.

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Base Sequence
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • DNA Copy Number Variations / genetics*
  • Female
  • Genomics
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Middle Aged
  • Molecular Diagnostic Techniques*
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein