What the test looks for
Sequencing of all coding regions of the BRCA1 and BRCA2 genes by next-generation sequencing (NGS).
On blood, the test looks for a hereditary predisposition; it requires the patient’s written consent and is part of an oncogenetics consultation. On tumour tissue, it also detects mutations acquired by the tumour, in particular for access to PARP inhibitors in ovarian cancer.
Variants are classified according to their pathogenicity (classes 1 to 5).
Required sample
- Germline testing: 2 EDTA tubes of 4 to 5 mL, with the patient’s signed consent.
- Tumour testing: FFPE block with tumour cellularity of at least 30%.
- Pathology report enclosed for tumour testing.