BRCAtest Somatic is designed to detect the patients with inherited and non-inherited BRCA1 and BRCA2 genes mutations that could benefit from treatment with PARP inhibitors.
Mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast or ovarian cancer as part of hereditary breast-ovarian cancer syndrome. Recent studies have shown that these genes can also be involved in the development of non-hereditary, sporadic tumors, since a proportion of ovarian, breast cancer and prostate cancer tumors contain somatic (tumor only) BRCA1 or BRCA2 pathogenic variants. Patients with tumors that harbor a somatic BRCA mutation may benefit from treatment with PARP inhibitors.
It has been shown that somatic BRCA genes mutations in patients with advanced ovarian cancer are predictive biomarkers of sensitivity to inhibitors of poly (ADP-ribose) polymerase (PARP) enzyme, which plays a critical role in the repair of damaged single-stranded DNA.
BRCA somatic mutations have been detected in various solid tumors, with greater frequency in ovarian cancer, pancreatic cancer, prostate cancer and breast cancer.
BRCAtest Germline detects inherited mutations, while BRCAtest Somatic will detect both somatic (present in tumor) and inherited mutations. Thus BRCAtest Somatic can increase the percentage of patients with a detectable BRCA mutation who could benefit from treatment with PARP inhibitors.
If a pathogenic mutation is detected the analysis of patient’s genomic DNA from patient's blood is recommended in order to determine the somatic or hereditary origin of the mutation. In case of a germline mutation the analysis of patient’s relatives for the particular mutation is also recommended.
In case of suspected hereditary syndrome the BRCAtest Germline or the HerediGENE is recommended.
The results will be available in 15 working days.
A paraffin block which contains the tumor tissue or one unstained slide of 3μm & six unstained slides of 10μm.
For information about the cost coverage of the test you should contact your personal insurance.
The payment can be made by bank transfer or credit/debit card.
Genekor is responsible for all the necessary procedures of the pick-up and return of the patient’s specimen. To arrange your sample pick-up and return, contact us or complete the Test Order Form.
Your results will be shared with the ordering physician via e-mail.
Genekor Medical S.A. is certified with ELOT EN ISO9001:2008 and ELOT EN ISO15189:2012, which necessarily demand the consent of each patient for the use of his genetic material for the test.
BRCAtest Somatic is carried out using the commercially available Oncomine BRCA assay on the Next Generation Sequencing platform Ion Proton (Thermo Fisher Scientific) which provides:
