Our BRCA test detects mutations, copy number changes and rearrangements in genes related to DNA homologous recombination repair (HRR). Mutations in these genes are associated with ovarian and breast cancer predisposition. Cancer cells carrying these mutations are responsive to treatments with PARP inhibitors and platinum therapy. Our test captures all exons and unique intronic regions of BRCA1 and BRCA2. The test also captures all coding regions of ATM and PALB2. To estimate the fraction of cancer cells that carry a somatic alteration in HRR genes, our test additionally captures frequently mutated genomic regions from seven additional genes (AKT1, AR, CTNNB1, FOXA1, PIK3CA, SPOP, TP53). The test can be used with circulating tumor DNA, fresh frozen cancer tissue, FFPE cancer tissue, or white blood cells.
The test is currently available for research use only.
|AKT1||Amino acid 17|
|AR||Amino acids 700 - 705, 742 - 743, 850 - 905|
|BRCA1||All exons and introns|
|BRCA2||All exons and introns|
|CTNNB1||Amino acids 30 - 46|
|FOXA1||Amino acids 245 - 275|
|PIK3CA||Amino acids 540 - 550, 1040 - 1050|
|SPOP||Amino acids 85 - 135|
Our circulating tumor DNA analysis methodology has been validated in internationally leading studies comparing circulating tumor DNA profiles against time-matched metastatic tissue biopsies and diagnostic biopsies: