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Human BRCA1/2 Gene Mutations Detection Kit

Human BRCA1/2 Gene Mutations Detection Kit   

Next Genetation Sequencing 

CE-IVD Certificate No. MDD-SZ-XW-160321

Only for research use in China

BRCA 1/2 Gene Mutation and Breast Cancer, Ovarian Cancer

About 2% of women with breast cancer and 10% -15% of women with ovarian cancer carry BRCA1 or BRCA2 gene mutations. BRCA1 and BRCA2 mutations are closely related to the occurrence of familial breast cancer.

According to the Breast Cancer Information Core (BIC), there are more than 3,000 kinds of BRCA1 and BRCA2 gene mutations, which are distributed throughout the whole coding region. The most common types of pathogenic mutations are frameshift mutations, nonsense mutations, while there are no obvious mutation hotspots. Most mutations lead to the formation of truncated proteins, resulting in the loss of BRCA1 or BRCA2 protein function and leading to the occurrence of tumor.

Detection significance

Through BRCA Detection Kit, patients with pathogenic mutations can use PARP inhibitors to kill tumor cells. AstraZeneca's PARP inhibitor olaparib has been listed in the United States, the European Union,and Macau China. The subgroup ovarian cancer patients with platinum-sensitive recurrent BRCA mutation had the greatest FPS benefit from treatment with olaparib maintenance therapy compared with placebo. As the first oral targeting inhibitor for ovarian cancer in the world, olaparib achieves significant and clinically meaningful improvement in median PFS of 6.9 months compared with placebo. In addition, there are no less than 5 kinds of similar PARP inhibitors been actively developed so far.

Detection of Genes and Loci


Performance Parameter

Detection Process:

Advantages and Characteristics

Easy Operation: With independent patented RingCap® technology, library construction can be done in only two steps.

Rapid Detection: Library construction takes only 3.5 hours, only 3--5 working days from sample extraction to report completing.

Accurate and Reliable: The targeting fragments are amplified by specific primers. Applicable to both paraffin embedded tissues and peripheral blood samples.

Comprehensive Inspection: As high-frequency mutant hotspots does not exist in the BRCA1/2 genes, this kit achieves the whole exomes sequencing, ensuring the integration of the detection.