Early diagnosis and treatment are extremely important in improving the survival rate of ovarian cancer patients.
At present, the commonly used drugs for the treatment of ovarian cancer: Carboplatin, Paclitaxel, Gemcitabine, Doxorubicin and Topotecan, and the long-term survival rate of advanced patients does not exceed 20%.
Patients with advanced ovarian cancer need more effective and targeted drugs.
NCCN guideline recommendation: patients carrying BRCA1/2 gene mutations should be managed in according to the risk management measures for hereditary breast/ovarian cancer syndrome (HBOC).
Studies have found that 23% of ovarian cancers are associated with hereditary gene mutations, and 65-85% of hereditary ovarian cancers are caused by BRCA1/2 germline mutations.For the early diagnosis of ovarian cancer, relevant guidelines recommend gene detections for ovarian cancer patients and their relatives.
US FDA has approved BRCA1/2 gene mutation detection
As companion diagnostics for targeted therapy decision-making of new clinical drug PARP-1 inhibitor Olaparib (LynparzaTM).
Ovarian cancer patients carrying BRCA1 and BRCA2 mutations are treated differently from non-carriers, and the mutation is associated with prolonged survival with chemotherapy.Ovarian cancer patients carrying BRCA mutations have more drug options for chemotherapy due to their sensitivity to chemotherapy.Gene detection has the following clinical significance:
It can identify women at a high genetic risk of ovarian cancer and help these groups and their families formulate preventive strategies in advance；
Currently, various international guidelines recommend a BRCA1/2 or multi-gene detection for all ovarian cancer patients.
Formulate treatment regimens:
It can identify patients who are sensitive to platinum-based chemotherapy or who are candidates for targeted therapy (e.g. PARP inhibitors).
| Standard version BRCA1/2 | Professional version 17 genes |
| Gene sequencing technology is used to detect single nucleotide polymorphism (SNP) and small insertions/deletions (InDel) in the two coding regions of BRCA1/2 genes (totally 16,000 bases); Multiplex Ligation-dependent Probe Amplification (MLPA) technology is used to detect large fragment rearrangement (LGF) of BRCA1/2 genes. | BHCA1、 BRCA2、 PALB2、 CDH1、 CHEK2、 ATM、 PTEN、 STK11、 TP53、 BAHD1、 BFIP1、 RAD51C、 RAD51D、 MLH1、 MSH2、 MSH6、 PMS2 |
