New challenges for BRCA testing: a view from the diagnostic laboratory

Andrew J Wallace

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory.

Original languageEnglish
Pages (from-to)S10-8
JournalEuropean Journal of Human Genetics
Volume24 Suppl 1
Publication statusPublished - 12 Aug 2016

Keywords / Materials (for Non-textual outputs)

  • Breast cancer
  • Cancer screening
  • Genetic testing
  • Tumour-suppressor proteins


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