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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

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

BRCA 1/2 gene mutation accounts for 2% of women with breast cancer and 10-15% of women with ovarian cancer. BRCA 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, distributing 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, by which resulting in the loss of BRCA1 or BRCA2 protein function and lead to the occurrence of tumor.

1)Patients with BRCA 1/2 mutations:

median PFS : 11.2 month :(treated with Olaparib) 4.3 month (treated with chemotherapeutics)

2)patients with wild-type BRCA 1/2:

median PFS : 7.4 month (treated with Olaparib)5.5 month (treated with chemotherapeutics)

Detection of Genes and Loci


1BRCA117q21Whole Exome
2BRCA213q12.3Whole Exome

Performance Parameter

Product NameCore TechnologyProduct Specification Matched InstrumentSample Types

Human BRCA1/2 Gene Mutations Detection 



16 tests/kit or 

32 tests/kit

Ion Torrent,


peripheral blood 
tumor tissue

Detection Significance


The detection results can be used for the risk assessment of familial inherited breast cancer,and helping clinicians to select suitable prophylactic surgery or drugs.

Drug Guidance

The breast/ovarian patients with BRCA 1/2 mutations will be more sensitive to orapani and other PARP inhibitors.

The breast/ovarian patients with BRCA 1/2 mutations will be more sensitive to platinum-based treatments.

Technical Highlights

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 2 working days from sample processing to reporting.

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 BRCA1/2genes, this kit achieves the whole exomes sequencing, ensuring the integration of the detection.

Detection Process