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The BRCA1 rs80357906 – 5382insC (qPCR) product is used for genotyping the rs80357906 polymorphism located within the human BRCA1 gene, a protein involved in DNA repair and classified as a tumor suppressor (Breast cancer type 1 susceptibility protein). The material for analysis are DNA preparations containing human genetic material.
Kit size: 100 reactions
Reaction: allelic discrimination using Taqman probes (FAM: wild-type allele, HEX: allele carrying the 5382insC mutation)
Determination: qualitative/quantitative
Tested genome: human (Homo sapiens)
Kit components:
The BRCA1 rs80357906 – 5382insC (qPCR) product is based on the Taqman probe genotyping technique. The DNA fragment surrounding the rs80357906 polymorphism is amplified by a pair of primers and detected by a pair of Taqman probes. The FAM-labeled probe is complementary to the sequence containing the GGG sequence (wild-type allele, G allele), while the HEX-labeled probe is complementary to the sequence containing the guanine nucleotide duplication (mutant allele, dupG allele).
During the reaction, these probes compete with each other to bind to the template. The probe that is 100% homologous to the DNA strand binds preferentially to it over the alternative probe. As the reaction progresses, a strong signal appears for the fully homologous probe and a weak signal for the alternative probe. The genotype of the sample is determined by comparing the signal intensity ratio between the two channels (FAM and HEX). For homozygous samples, a strong signal is obtained on one channel and a weak signal on the other channel. For heterozygous samples, which contain binding sites for each probe, an intermediate signal is obtained on both channels.
According to the dbSNP (NCBI) database, the 5382insC mutation (cytosine insertion at position 5382 of the BRCA1 gene) is currently described under the number rs80357906 as a guanidine nucleotide duplication (dupG). This is because the BRCA1 gene is located on the chromosome in the opposite orientation to the chromosome numbering. The rs80357906 polymorphism consists of the insertion of an additional nucleotide within the guanine nucleotide sequence. The wild-type allele has the sequence GGG (nucleotides 43057063-43057065 on chromosome 17). The alternative allele is GGGG (dupG). Other alternative names for the 5382insC mutation are c.5266dupC, c.5263_5264insC, and p.Ser1755?fs.
The insertion of an additional guanine nucleotide leads to a frameshift mutation and the formation of a non-functional protein product. The rs80357906 polymorphism is equivalent to the rs397507247 polymorphism (found in older data sets).
The rs80357906 polymorphism was first described in 1994 as a mutation occurring in Canadian families with cases of breast and ovarian cancer.
The 5382insC mutation occurs in a significant percentage of people with breast and ovarian cancer in many European countries. In many countries (including Greece, Germany, Poland, and the Czech Republic), it is the most common mutation in people with breast and ovarian cancer (approximately 40-50% of cases). The 5382insC mutation is considered one of the so-called founder mutations for many Slavic countries, which means that people who have it share a common ancestor.
