Prevalence of two BRCA1 mutations, 5382insC and 300T &gt; G, in ovarian cancer patients from Ukraine

Gorodetska, Ielizaveta; Serga, Svitlana; Lahuta, Tetiana; Li, Ostapchenko; Demydov, S. V.; Khranovska, N.; Skachkova, O.; Inomistova, M.; Kolesnik, O.; Svintsitsky, V S; Tsip, N; Peresunko, A. P.; Kmit, N.; Manzhura, O.P.; Rossokha, Zoia; Popova, Olena; Salomakhina, H.; Kyriachenko, S. P.; Kozeretska, I. A.

doi:10.1007/s10689-017-9978-9

Cited by 8 publications

(3 citation statements)

References 26 publications

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“…3d, e ). Of those, 17 (48.6%) BRCA1/2 and four (18.2%) non-BRCA1/2 variants have been previously described as founder mutations, commonly observed in Eastern European, European, Russian, or other ethnically similar populations [ 87 , 103 - 114 ]. When comparing our results with standard BRCA1/2 PCR assays, only 42.6% of patients who were found to harbor DV in either BRCA1, or BRCA2 in our study, could be identified as BRCA1/2-positive via PCR panels routinely employed in clinical practice in Russia.…”

Section: Discussionmentioning

confidence: 99%

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing

Lebedeva,

Veselovsky,

Kavun

et al. 2024

World J Oncol

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Section: Discussionmentioning

confidence: 99%

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing

Lebedeva,

Veselovsky,

Kavun

et al. 2024

World J Oncol

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“…If there is a history of BC and OC in the family, as a rule, its members are carriers of one of the following allelic variants: BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 T300G, BRCA1 2080delA, BRCA2 6174delT, CHEK2 1100delC, CHEK2 I157T, and BLM C1642T in Eastern Europe and in Russia [ 11 , 12 , 13 , 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer

Savkova

Gulyaeva

Gerasimov

et al. 2023

IJMS

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Familial cancer syndromes, which are commonly caused by germline mutations in oncogenes and tumor suppressor genes, are generally considered to be the cause of primary multiple malignant neoplasias (PMMNs). Using targeted genomic sequencing, we screened for eight germline mutations: BRCA1 185delAG, BRCA1 T300G, BRCA1 2080delA, BRCA1 4153delA, BRCA1 5382insC, BRCA2 6174delT, CHEK2 1100delC, and BLM C1642T, which provoke the majority of cases of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). Pathogenic allelic forms were discovered in nine samples: in seven instances, it was BRCA1 5382insC, and in the following two, BRCA1 4153delA and BRCA1 T300G. The age of onset in these patients (46.8 years) was younger than in the general Russian population (61.0) for BC but was not for OC: 58.3 and 59.4, correspondingly. There were invasive breast carcinomas of no special type and invasive serous ovarian carcinomas in all cases. Two or more tumors of HBOC-spectrum were only in five out of nine families of mutation carriers. Nevertheless, every mutation carrier has relatives who have developed malignant tumors.

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“…Зокрема, обидва гени беруть участь у репарації ДНК та регуляції транскрипції, клітинного цик-лу та апоптозу у відповідь на ушкодження ДНК [3,4]. В Україні частоти мутацій генів BRCA1/2 вивчалися лише у жінок [5,6], а ситуація із захворюваннями, пов'язаними з порушенням роботи цих генів у чоловіків, залишається майже не дослідженою. Мутація 6174delT є мутацією зсуву рамки зчитування і призводить до зупинки транскрипції та в подальшому трансляції функціонального білка BRCA2.…”

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Mutation 6174delT in the BRCA2 gene in men with prostate cancer in Ukraine

Gorodetska¹,

Serga²,

Stakhovsky³

et al. 2018

Fakt. eksp. evol. org.

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Aim. Mutations in BRCA1/2 genes are known to increase the risk of human breast cancer, pancreatic cancer and prostate cancer. In Ukraine only mutations in woman BRCA1/2 were studied, thus the situation with these diseases related to disturbance of these genes in Ukrainian men remains poorly explored. 6174delT is a frameshift mutation and is results in stop of transcription and translation of the functional protein BRCA2. Methods. Genomic DNA was purified from peripheral blood.We performed PCR analysis of 116 DNA from men with prostate cancer in order to detect presence of mutation in BRCA2 gene (6174delT). To detect the mutation by mutagenically separated PCR, we used two PCR reactions. The first reaction used one general primer and one primer specific to the mutation, and the second reaction was with one general primer and one primer specific to the wild type allele. Results. Among screened samples no mutations in the BRCA2 gene were found in prostate cancer patients. Conclusions. Our results suggest that the incidence of this event is not more than 0.9% among men with prostate cancer inUkraine. Keywords: mutation, 6174delT, BRCA2, prostate cancer, Ukraine.

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Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine

Cited by 8 publications

References 26 publications

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing

Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer

Mutation 6174delT in the BRCA2 gene in men with prostate cancer in Ukraine

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