Research paper 357 Differences in the characteristics of families with BRCA1 and BRCA2 mutations in Israel G Rennert 1, S Dishon 1, H S Rennert 1 and F Fares 2 Three specific mutations in the BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) genes have been reported to be of high prevalence in the ...
5382insC and C61G mutations was also evaluated in all studied groups (Table 6). The evaluation revealed that the 5382insC homozygous mutation was more
Among the most known mutations in these tumor suppressor genes are 5382insC and 185delAG in BRCA1 and 6174delT in BRCA2. The aim of the current study was to investigate the frequency of these BRCA1 and BRCA2 mutations in southern Iranian familial and sporadic cases with breast cancer.
In Russia, studies on BRCA gene mutations began relatively recently [2-6]; however, even the few available data show that the 5382insC mutation of the BRCA1 gene is the most prevalent in Russia.
Results and Discussion BRCA Mutations The BRCA1 mutations (185delAG and 5382insC) and the BRCA2 mutation (6174delT) have been detected in a significant proportion of Ashkenazi Jewish women with early-onset breast cancer (Figure 1).
Allele specific oligonucleotide (ASO) assays were used for the BRCA1 185delAG and 188del11 mutations and allele specific PCR's were used for the BRCA1 5382insC mutation and the BRCA2 6174delT mutation. 1 Genomic DNA from a known heterozygous individual for each mutation was included in 96-well PCR ...
Two of the most common BRCA1 mutations in the Ashkenazi Jewish population are the deletion of an adenosine (A) and a guanine (G) nucleotide at the position 185 (185delAG) and the insertion of a cytosine (C) nucleotide at the position 5382 (5382insC) (Table 2).
Mutation detection was carried out on the basis of a PCR-based amplification, and two founder mutations for BRCA1 (185delAG and 5382insC) and one for BRCA2 (6174delT) were screened and considered by pedigree analysis.
Backe J, Hofferbert S, Skawran B, Dork T, Stuhrmann M, Karstens JH, Untch M, Meindl A, Burgemeister R, Chang-Claude J, Weber BH: Frequency of BRCA1 mutation 5382insC in German breast cancer patients.
PolishPolish 300T>G, 5382insC, C61G, 4153delA300T>G, 5382insC, C61G, 4153delA Russians ScottishSouth Africans RussiansSouth Africans Scottish 5382insC, 4153delA