Test BRCA1 i BRCA2™ The BRCA1 and BRCA2 test is a genetic screening test performed using the Next Generation Diagnosis (NGS) technique. It aims at detecting a mutation in the sequence coding both BRCA genes. The test allows determining whether a given individual is exposed to the higher risk of developing breast and/or ovarian cancer, connected with carrying the specific mutations in BRCA genes.
The test is performed in two stages:
- Sequencing using the NGS technique allows the complete analysis of both genes in order to determine whether there are point mutations in their sequence in a given sample.
- The molecular and biological effect of the variants found in the patient is determined. The patient receives also the data on the clinical significance of the detected changes. In order to obtain this information, the available literature sources and information is used collected in the databases including HGMD Professional, NCBI ClinVar, dbSNP, Exome Variant Server, 1000 Genomes Project and BIC. In the case of changes which have not been described, their pathogenicity is established with the use of bioinformatic prediction algorithms including Mutation Taster, SIFT, PolyPhen-2, Mutation Assessor, and other.
In the result of the test, the patient receives the complete information on the detected variants together with the comprehensive interpretation including both the analysis of molecular importance and the relationship between the detected changes and the cancer risk.