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The BRCA1 rs80357914 – 185delAG (qPCR) product is used for genotyping the rs80357914 polymorphism located within the human BRCA1 gene encoding 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 185delAG mutation)
Determination: qualitative/quantitative
Tested genome: human (Homo sapiens)
Kit components:
The BRCA1 rs80357914 – 185delCT (qPCR) product is based on the Taqman probe genotyping technique. The DNA fragment surrounding the rs80357914 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 CTCT sequence (wild-type allele, CT allele), while the HEX-labeled probe is complementary to the sequence containing the delCT deletion (mutant allele, delCT 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.
Description of the rs80357914 polymorphism (mutation 185delAG) consists of a CT dinucleotide deletion. The wild-type allele has the sequence CTCT (nucleotides 43124028-43124031 on chromosome 17). The alternative allele is CT (delCT). The deletion leads to a frameshift mutation and the formation of a non-functional protein product. Alternative names for the 185delAG mutation are c.66_67delAG, c.68_69delAG, and p.Leu22_Glu23LeuValfs. The different nomenclature of the rs80357914 (delCT) polymorphism compared to the nomenclature of mutations within the gene (delAG) is due to the fact that the BRCA1 gene is located on the chromosome in the opposite orientation to the chromosome numbering.rs80357914
In the dbSNP (NCBI) database, the delCT mutation was originally described under the number rs796856605. In 2017, the rs796856605 polymorphism was merged with the rs386833395 polymorphism. In 2018, the latter was merged with the rs80357914 polymorphism, which was originally described as a CT dinucleotide duplication. The alternative allele (dupCT) has the sequence CTCTCT. Thus, the rs80357914 polymorphism has three allelic variants: the wild-type allele (CTCT), the deletion allele (delCT) with the sequence CT, and the insertion allele (insCT) with the sequence CTCTCT.
The 185delAG mutation is associated with an increased risk of breast or ovarian cancer. It is estimated that the risk of developing one of these types of cancer in women who have inherited the delCT allele is 90%. The frequency of this allele is particularly high among Ashkenazi Jews living in Central, Eastern, and partly Western Europe, and since the 17th century also in America. Approximately 1% of people in this population have the delCT allele. At the same time, one-third to one-half of breast cancer cases in women in this population are associated with the presence of the delCT allele.
