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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
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The \textit{BRAF} V600E mutation in single- institution study of Russian melanoma patients.

https://arctichealth.org/en/permalink/ahliterature277672
Source
Cancer Biomark. 2016;16(1):153-60
Publication Type
Article
Date
2016
Author
Ludmila Lyubchenko
Marina Emelyanova
Vladimir Shamanin
Lev Demidov
Alexander Zasedatelev
Tatyana Nasedkina
Source
Cancer Biomark. 2016;16(1):153-60
Date
2016
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Amino Acid Substitution
Codon
DNA Mutational Analysis
Female
Follow-Up Studies
Gene Frequency
Humans
Male
Melanoma - diagnosis - genetics - mortality
Middle Aged
Mutation
Neoplasm Staging
Prognosis
Proto-Oncogene Proteins B-raf - genetics
Russia
Young Adult
Abstract
The activating mutation BRAF V600E is considered to be a diagnostic cutaneous melanoma (CM) marker important for prognosis and targeted therapy.
The aim of this study was to determine the frequency of the V600E mutation in CM patients in Russia and to estimate the influence of the BRAF gene mutation status on prognosis and clinical outcome.
To ensure mutation detection in FFPE tissue, interlaboratory validation was performed using three different methods: allele-specific hybridisation on a biochip, allele-specific real-time PCR and, in some cases, direct sequencing.
Mutation V600E was detected in 49% of patients. The age of disease manifestation was significantly lower in mutated (MT) BRAF patients, and the median age difference between the wild-type (WT) and MT BRAF groups (P= 0.002) was 10 years. A tumour thickness more than 1 mm was also more frequently observed in the MT BRAF group (P= 0.059). Patients from the MT BRAF group were more likely to have ulceration compared to the WT group (P= 0.088). No statistically significant differences were found between the relapse-free, progression-free or overall survival of CM patients in the MT BRAF and WT BRAF groups.
The data obtained show that the V600E BRAF mutation occurred in about half of melanoma patients; it was associated with earlier manifestation of melanoma and likely with more aggressive clinical features.
PubMed ID
26600396 View in PubMed
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