Key aspects of BRCA tumour testing

This guide will walk you through the process of BRCA tumour testing, featuring case study videos of a lab performing testing.

Tumour testing workflow: Preparation of tissue

  • A pathologist firstly isolates the tumour cells from a FFPE block using macrodissection.
  • The DNA is extracted from the tumour cells and quantified.

Tumour testing workflow: Enrichment

  • BRCA1/2 tumour assay kits are used to amplify specific sections of the tumour DNA using multiplex PCR.
  • Fragment size analysis is performed to assess whether the multiplex PCR has worked.

Tumour testing workflow: Sequencing

  • The sample is prepared for sequencing using specific kits for the NGS system and finally loaded onto the sequencing machine.

Tumour testing workflow: Data analysis

  • Sequenced bases are aligned against the reference genome and any variants are called and named according to guidelines.
  • Pathogenicity of a mutation is classified based on available databases.
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