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Protsenko S.A.,Nn Petrov Institute Of Oncology | Semionova A.I.,Nn Petrov Institute Of Oncology | Komarov Y.I.,Nn Petrov Institute Of Oncology | Aleksakhina S.N.,Nn Petrov Institute Of Oncology | And 3 more authors.
Investigational New Drugs | Year: 2015

Summary: We report a patient with a metastatic relapse of clear cell sarcoma, whose tumor harbored BRAF V600E mutation. Standard chemotherapy with doxorubicin and ifosfamide failed to slow the disease progression. Subsequent administration of vemurafenib (960 mg twice a day) resulted in complete tumor response after 8 weeks of treatment. Literature data on the use of vemurafenib and dabrafenib in non-melanoma BRAF-mutated tumors are reviewed. © 2015 Springer Science+Business Media New York.

Suspitsin E.N.,Saint Petersburg Pediatric Medical University | Sokolenko A.P.,Saint Petersburg Pediatric Medical University | Lyazina L.V.,Saint Petersburg Pediatric Medical University | Preobrazhenskaya E.V.,Nn Petrov Institute Of Oncology | And 2 more authors.
Molecular Syndromology | Year: 2015

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly complicated. We used an Illumina MiSeq platform for whole exome sequencing analysis of a family with strong clinical features of BBS. A homozygous c.1967-1968delTAinsC (p.Leu656fsX673; RefSeq NM-176824.2) mutation in BBS7 was identified in both affected children, while their healthy sibling and the non-consanguineous parents were heterozygous for this allele. Genotyping of 2,832 DNA samples obtained from Russian blood donors revealed 2 additional heterozygous subjects (0.07%) with the c.1967-1968delTAinsC mutation. These findings may facilitate the genetic diagnosis for Slavic BBS patients. © 2015 S. Karger AG, Basel.

Pitulko V.V.,Russian Academy of Sciences | Tikhonov A.N.,Russian Academy of Sciences | Pavlova E.Y.,Arctic and Antarctic Research Institute | Nikolskiy P.A.,Russian Academy of Sciences | And 2 more authors.
Science | Year: 2016

Archaeological evidence for human dispersal through northern Eurasia before 40,000 years ago is rare. In west Siberia, the northernmost find of that age is located at 57°N. Elsewhere, the earliest presence of humans in the Arctic is commonly thought to be circa 35,000 to 30,000 years before the present. A mammoth kill site in the central Siberian Arctic, dated to 45,000 years before the present, expands the populated area to almost 72°N. The advancement of mammoth hunting probably allowed people to survive and spread widely across northernmost Arctic Siberia.

Sokolenko A.P.,St Petersburg Pediatric Medical University | Volkov N.M.,City Cancer Center | Preobrazhenskaya E.V.,St Petersburg Pediatric Medical University | Suspitsin E.N.,St Petersburg Pediatric Medical University | And 4 more authors.
Molecular Biology Reports | Year: 2016

BRCA1 L1705P (c.5114T>C) has been classified in the NCBI SNP database as the variant with uncertain significance and is absent in major BRCA1 databases. BRCA1 W1837X (c.5511G>A) results in a loss of only last 27 residues of BRCA1 protein, thus its pathogenic role still requires a confirmation. This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively. Significant evidence for BC-predisposing impact of the mentioned mutations have been obtained: (1) both index cases presented with the triple-negative receptor status of BC disease; (2) complete segregation with BRCA1-related cancers was observed in the families of these patients; (3) somatic loss of the remaining (wild-type) BRCA1 allele was detected in tumor tissues of the affected women. The results of this study have to be taken into account while providing genetic counseling to cancer patients and while considering the use of BRCA1-specific therapeutic compounds for BC treatment. © 2016 Springer Science+Business Media Dordrecht

Paidimirova M.I.,St Petersburg Pediatric Medical University | Zemtsovsky E.V.,St Petersburg Pediatric Medical University
Russian Journal of Cardiology | Year: 2013

Aim. To assess the causal factors in the development of thoracic aortic aneurysm. Despite the existing screening programmes, widely used visualisation methods, and improved intervention techniques, aortic aneurysm remains one of the leading causes of sudden cardiac death. The existing evidence on the causal factors in the development of thoracic aortic aneurysm is contradictory. Material and methods. We analysed medical histories of the patients hospitalised for thoracic aortic stenting from early 2011 to May 1 2012. The age and gender composition of the sample and the main causal factors resulting in the development of thoracic aortic aneurysm were assessed. Results. In total, 90 patients underwent thoracic aortic stenting. The main causes for the development of thoracic aortic aneurysm were: bicuspid aortic valve (n=30, 34%), atherosclerosis (n=30, 34%), and Marfan syndrome (n=10, 95). In 45 intraintervention biopsy samples, cystic medial necrosis was found in 55%, atherosclerosis in 27%, and normal tissue in 15% (n=12). Conclusion. The most common concomitant pathology in patients with thoracic aortic aneurysm was bicuspid aortic valve, aortic atherosclerosis, and hereditary connective tissue disorders. The main causal factor in the development of thoracic aortic aneurysm was cystic medial necrosis. © 2013, Silicea-Poligraf. All rights reserved.

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