BRCA genes (BRCA1 & BRCA2): Full analysis
Sophia DDM BRCA MASTRdx
About 5-10% of all breast / ovarian cancers are hereditary in nature and are associated with genetic alterations in BRCA1 & BRCA2 genes. Women with pathogenic mutations are at 50% risk to develop breast cancer by age of 50 and 87% by age of 70. The risk for ovarian cancer is estimated at 44% by the age of 70.
Almost 90-94% of pathological cases is due to mutations. Mutations is detected by Sanger Sequencing but lately Next Generation Sequencing provides an alternative, promising technology.
The other 6-10% of pathological cases in the BRCA1 & BRCA2 genes is due to large genomic rearrangements, detected by the MLPA technique.
Karyo's NGS based BRCA testing is CE-IVD marked.