Polymorphisms in the BRCA2 gene
The BRCA2 gene performs functions similar to the BRCA1 gene. Its product plays an important role in the DNA repair process and inhibits the development of cancer. Mutations within this gene increase the risk of hereditary breast and ovarian cancer development. In addition, they can cause prostate, pancreatic and skin cancer. Studies have shown that the risk of ovarian cancer among women with mutation in BRCA2 gene is 11-25% higher compared to the general population. Most mutations in the BRCA2 gene result in a broken, non-functional protein formation that cannot prevent DNA damage. As a result, mutations in DNA are accumulated, leading to the development of cancer.
The AmpliSNiP BRCA2 (qPCR) kits allow for the analysis of polymorphisms rs4987117 and rs80359550.
Each kit contains two different RM reaction mixtures enabling the detection of each of the allelic variants.
| Polymorphism | RM variants | Description |
| rs4987117 | RM-C, RM-T | Detection of allelic variants: wild type (RM-C) and variant with mutation (RM-T) |
| rs80359550 | RM, RM-dT | Detection of allelic variants: wild type variant (RM) and variant with deletion of T nucleotide (RM-dT) |
The qPCR reactions are a duplex-type. The FAM channel serves to detect the specific allele of the BRCA2 gene. The second channel (HEX) serves to detect the human DNA. The kits also include positive controls (PC) which contain both versions of the assayed polymorphisms. They enable to control the correct course of the qPCR reactions.
| Polymorphism | Cat. No. | Manual | SDS |
| rs4987117 | SNP020-50 |  |
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| rs80359550 | SNP021-50 | |
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