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BRCA1/2 Gene Mutations Detection Kit

 (High Throughput Sequencing)


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

Germline mutations in the BRCA1/2 gene may increase the risk of cancer. About 10-15% of ovarian cancers ,5-10% of breast cancers are caused by BRCA1/2 gene germline mutations. About 45% of BRCA1/2 mutation carriers have a risk of developing ovarian cancer in the future, the risk for breast cancer reaches 85%.

JAMA. 2017 Jun 20; 317(23): 2402-2416.

Figure A: BRCA1 and BRCA 2 mutation carriers have a cumulative risk of breast cancer for 72% and 69% bythe age of 80;

Panel B: BRCA1 and BRCA2 mutation carriers have a cumulative risk of ovarian cancer  for 44% and 17% bythe age of 80 years.

Detection Item


GeneChromosome No.ExonCoverage
BRCA1Chr1724Whole Exome
BRCA2chr1317Whole Exome

Performance Parameter

Product NameCore TechnologyProduct Specification Compatible InstrumentSample Types

Human BRCA1/2 Gene Mutations Detection Kit  


16 tests/kit 


32 tests/kit

Ion Torrent,


tumor tissue

peripheral blood /

 oral swab / saliva

Detection Significance

1. Assess family genetic risk and provides comprehensive, accurate, professional and precise diagnosis for tumor

 diagnosis and treatment.

2.To evaluate the response of patients with BRCA1 / 2 mutant malignant tumors to PARP inhibitors such as olapani.

Product Highlights

Simple Operation:Based on the independent patent technology RingCap®, library construction can be finished in only 2 steps.

Rapid Detection:The library construction takes only 1 day.only 2 working days from sampling to reporting.

High Sensitivity:Detect gene mutations as low as 5% in 10ng DNA samples.

Comprehensive Detection:Use specific primers to amplify and capture the target fragment. Because BRCA1/2 gene mutations do not have high-frequency mutationhotspots, whole-exome sequencing is used to ensure the comprehensiveness of detection.

Detection Process