all BRCA1/2 exons
Analyze BRCA1/2 exons and detects somatic and germline mutations
Breast cancer is the most common cancer in women in the world. Mutations in BRCA1 and BRCA2 have been confirmed to be highly related to breast cancer and ovarian cancer. American Society of Clinical Oncology (ASCO) reported that BRCA mutation carriers have an increased risk of developing breast cancer (54-85%), ovarian cancer (40-60%), prostate cancer (20%), and pancreatic cancer (5%)*1. Research has shown that 8% of the breast cancer patients and 14% of the ovarian cancer patients carry BRCA mutations.*2 Moreover, as many as 50% of the patients with hereditary breast and ovarian cancer syndrome (HBOC) carry BRCA mutations.*3 BRCA1 and BRCA2 are DNA repair genes and act as tumor suppressors. BRCA1/2 harbor 300-500 known variants and do not contain hotspots. ACTBRCA uses the NGS technology to analyze all exons of BRCA, and therefore detects variants in all possible positions. ACTBRCA thus provides physicians with complete genetic information for molecular diagnostics."
1.Garber JE., (Update on screening and surveillance in BRCA 1/2 carriers) 2015 ASCO Annual Meeting
2.Alsop K, et al., J Clin Oncol., 30:2654–63, 2012.
3.Castéra L., Eur. J. Hum. Genet., 22:1305–1313, 2014.
1. Detects Somatic and Germline Mutations
ACTBRCA™ detects comprehensive somatic DNA mutations from FFPE samples and germline mutations from blood samples
2. Comprehensively analyzes BRCA1/2 exons
Covers 100% of BRCA1/2 exons and splicing regions
3. Uses NGS to detect multiple genetic mutation types
- Single nucleotide variants (Splicing site, Nonsense and Missense)
- Small insertions and deletions
- Copy number variations
- Large genomics rearrangements
4. Integrates multiple bioinformatics databases
- ACTBRCA (ACT Genomics Internal Database)
ACT Genomics initiated the first “BRCA 100 Project ” in Taiwan for testing 100 ovarian cancer patients with ACTBRCA™.
Results show as many as 12% of the ovarian cancer patients carry BRCA1/2 mutations, and 25% of serous ovarian cancer patients carry BRCA1/2 mutations. These collected results will facilitate the accuracy of the ACTBRCA™ tests.
- BCI (Breast Cancer Information Core, NIH)
- UTAH (University of Utah Department of Pathology)
- LOVD (Leiden Open Variation Database, LUMD)
- ClinVar (Clinical Significance for Variants Relative to Phenotypes, NCBI)
- BRCA Share (UMD-BRCA1/2 Mutations Database, BRCA GGC Consortium)
5. Short turnaround time: 14 calendar days
all BRCA1/2 exons
NGS Sequencing Mean Depth
> 1000 X
FFPE, (Blood sample if required for germline mutaiton test)
total DNA input 100ng