The Archer® VariantPlex™ BRCA1/2 Kit is a robust targeted next-generation sequencing (NGS) assay to simultaneously detect and characterize all known germline mutations in BRCA1 and BRCA2 with full exon coverage. The power of the VariantPlex BRCA1/2 Kit lies in Archer’s proprietary Anchored Multiplex PCR™-based enrichment, which enables detection of all BRCA1 and BRCA2 variants in a single sequencing assay. Combined with an easy-to-use workflow and an intuitive, comprehensive bioinformatics platform, the VariantPlex BRCA1/2 Kit eliminates the bottlenecks associated with detecting mutations in these cancer susceptibility genes.
For Research Use Only. Not for use in diagnostic procedures.
The VariantPlex BRCA1/2 Kit design covers all coding and non coding exons in RefSeq-annotated transcript models for these genes, as shown in the image below of full bi-directional coverage of BRCA2 exon 13.
The table below shows the percent of BRCA1 and BRCA2 coding bases at various coverage depths. Increasing the number of reads per sample will allow for 100% coverage at greater depth.
|Coverage depth||Non-deduplicated reads||Deduplicated reads|
|35X||100% bases covered||100% bases covered|
|100X||99.97% bases covered||99.75% bases covered|
|250X||98.48% bases covered||94.39% bases covered|
The VariantPlex BRCA1/2 Kit shows coverage uniformity greater than 97%, maximizing coverage of all target regions with the minimum total reads. This high coverage uniformity allows you to multiplex more samples on the same sequencing run.
The density plot shows the portion of positions (y-axis) in BRCA1 and BRCA2 with the indicated per-base ratio to median coverage and depicts uniformity based on the removal of PCR duplicates (blue) or not. Data is taken from 250K reads using 12 cycles of the first PCR followed by 20 cycles of the second PCR.
The VariantPlex BRCA1/2 Kit contains primers to detect virtually all known mutation samples including SNP, insertions, and deletions. The table below the gene variants that were accurately called when using mutation-positive samples.
BRCA1 and BRCA2 are human genes, and the corresponding proteins play an important role maintaining genomic stability by promoting repair of double-strand DNA breaks1. Mutations in BRCA1 or BRCA2 genes can prevent protein translation or result in protein misfunction. DNA repair is thus affected, resulting in genetic alterations that lead in oncogenesis2.
Inherited BRCA1/2 mutations substantially increase the lifetime risk of developing breast and/or ovarian cancer. Within the general population, the lifetime risk of developing breast cancer is about 12%. If BRCA1 or BRCA2 mutations are inherited, this risk increases to 55-65% and 45%, respectively3. BRCA1-related breast cancers are more likely to fall in the category of “triple-negative” disease (i.e., estrogen and progesterone receptor-negative and with no HER2/nue overexpression)4, resulting in nonresponse to hormonal therapy or targeted therapies against the HER2. While most triple-negative breast cancers are difficult to treat, there is evidence suggesting that prognosis is favorable when linked to BRCA1/2 mutations5.
Like breast cancer, ovarian cancer risk increases with BRCA1/2 mutations. Within the general population, the lifetime risk of developing ovarian cancer is 1.4%. If a BRCA1 or BRCA2 mutation is inherited, this risk increases to 39% or 11-17%, respectively. Recently, there has been activity related to drug development for ovarian cancer patients with BRCA1/2 mutations6.
In addition to breast and ovarian cancer, BRCA1/2 mutations are associated with fallopian tube cancer and peritoneal cancer7. Men with mutations are at increased risk of male breast cancer and prostate cancer8, and evidence also suggests that both sexes are at increased risk of pancreatic cancer9.
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