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(Next Generation Sequencing)
GENE MUTATION AND TUMOR
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.
BRCA1 AND BRCA2 FUNCTIONAL DOMAINS
Nat Rev Cancer. 2011 Dec 23; 12 (1): 68–78.
|Product Name||Core Technology||Pack Size||Instruments Validated||Sample Types|
peripheral blood /
oral swab / saliva
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 Olaparib.
FEATURES & ADVANTAGES
1.Ease of Use: Based on the independent patent technology RingCap®, library preparation in 2 steps.
2.Fast Results: The library preparation takes 3.5 hours, 2 working days from sampling to reporting.
3.High Sensitivity: Detect gene mutations as low as 5% in 10ng DNA samples.
4.Comprehensive Coverage: All-exon and exon/intra Sequencing at the intron junction can ensure the comprehensiveness of the detection.
1.Nucleic Acid Extraction
2.Library Preparation （3.5 hours total time）