Detection of the 5382insC mutation in the human BRCA1 gene with fluorescent labeled oligonucleotides

Митрофанов, Д. В.; Chasovnikova, O. B.; Kovalenko, Sergei; Lyakhovich, V. V.

doi:10.1134/s002689330906003x

Cited by 3 publications

(1 citation statement)

References 23 publications

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“…A total of 564 DNA samples obtained from the breast cancer patients were genotyped. Among these, 11 women (1.95%), heterozygous carriers of the mutation of interest were identified [8].…”

Section: Allele Specific Amplification Of Dna Fragmentsmentioning

confidence: 99%

Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region

et al. 2012

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Frequencies of the 5382insC mutation in the BRCA1 gene and the 1100delC mutation in the CHEK2 gene were compared in the group of breast cancer patients and the large scale sample, consisting of 7920 DNA specimens from healthy residents of the city of Novosibirsk. Higher frequencies of these mutations in the patient group compared to the control sample (1.95% versus 0.25% for BRCA1 5382insC, and 1.78% versus 0.40% for CHEK2 1100delC) were observed, pointing to their association with susceptibility to breast cancer (OR = 7.86; 95% CI 3.51-17.30 and OR =4.46: 95% CI 2.

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“…A total of 564 DNA samples obtained from the breast cancer patients were genotyped. Among these, 11 women (1.95%), heterozygous carriers of the mutation of interest were identified [8].…”

Section: Allele Specific Amplification Of Dna Fragmentsmentioning

confidence: 99%

Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region

et al. 2012

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Genetics of breast cancer in African populations: a literature review

Abbad

Baba

Dehbi

et al. 2018

Glob. Health Epidemiol.

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Breast cancer (BC) is one of the most complex, diverse and leading cause of death in women worldwide. The present investigation aims to explore genes panel associated with BC in different African regions, and compare them to those studied worldwide.We extracted relevant information from 43 studies performed in Africa using the following criteria: case-control study, association between genetic variations and BC risk. Data were provided on mutations and polymorphisms associated with BC without fixing a specific date. Case-only studies and clinical trials were excluded.Our study revealed that the majority of African BC genetic studies remain restricted to the investigation of BRCA1 and BRCA2 genes and differences in their mutations spectrum. Therefore, it is necessary to encourage African researchers to characterize more genes involved in BC using methods generating global information such as next-generation sequencing in order to guide specific and more effective therapeutic strategies for the African community.

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Assessing the Relevance of Molecular Genetic Testing for Mutations in BRCA Genes of Patients with Ovarian and Breast Cancer

et al. 2020

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Detection of the 5382insC mutation in the human BRCA1 gene with fluorescent labeled oligonucleotides

Cited by 3 publications

References 23 publications

Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region

Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region

Genetics of breast cancer in African populations: a literature review

Assessing the Relevance of Molecular Genetic Testing for Mutations in BRCA Genes of Patients with Ovarian and Breast Cancer

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