Polymorphisms in the BRCA1 gene
BRCA1 gene plays an important role in the genome stability, including DNA repair. BRCA1 is an anti-oncogene, it prevents cancer development. Protein encoded by this gene binds to other proteins in the cell nucleus, forming a complex which is responsible for linking the broken DNA fragments. Over 1800 mutations have been identified within the BRCA1 gene. Majority of these mutations are responsible for 40-80% of cases of the hereditary breast and ovarian cancer. Mutations in the BRCA1 gene result in formation of a cleaved protein or interruption of its synthesis. Lack of functional BRCA1 protein impairs DNA repair processes. As a result, mutations are accumulated in the DNA sequence, which increases the risk of cancer. For persons with inherited mutations in the BRCA1 gene, the risk of cancer development is further modulated by environmental factors such as diet and lifestyle.
Diagnostic kit AmpliSNiP BRCA1 (qPCR) allow to analyze polymorphisms located in the BRCA1 gene, namely: rs80357064, rs80357609, rs397507246, rs80357711, rs28897672.
Each kit contains two different RM reaction mixtures enabling the detection of each of the allelic variants.
| Polymorphism | RM variants |
Description |
| rs28897672 | RM-G, RM-T | Detection of allelic variants: wild type variant (RM-T) and variant with mutation (RM-G) |
| rs80357906 (formerly rs397507246) | RM, RM-iC | Detection of allelic variants: wild type variant (RM) and variant with nucleotide C insertion (RM-iC) |
| rs80357064 | RM-A, RM-C | Detection of allelic variants: wild type variant (RM-A) and variant with mutation (RM-C) |
| rs80357609 | RM, RM-dGTAAA | Detection of allelic variants: wild type variant (RM) and variant with GTAAA deletion (RM-dGTAAA) |
| rs80357711 | RM, RM-dT | Detection of allelic variants: wild type (RM) and variant with deletion of T nucleotide (RM-dT) |
The qPCR reactions are a duplex-type. FAM channel serves to detect the specific allele of the BRCA1 gene, whereas 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 |
| rs28897672 | SNP018-50 |  |
|
| rs80357906 (formerly rs397507246) | SNP016-50 | |
|
| rs80357064 | SNP014-50 | |
|
| rs80357609 | SNP015-50 | |
|
| rs80357711 | SNP017-50 | |
|