A5023715051- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Cancer-related Molecular Pathways
- RNA modifications and cancer
- Ocular Oncology and Treatments
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Renal cell carcinoma treatment
- Prostate Cancer Treatment and Research
- Bladder and Urothelial Cancer Treatments
- Genetic Syndromes and Imprinting
- Tuberous Sclerosis Complex Research
- Fibroblast Growth Factor Research
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- Renal and related cancers
- Breast Cancer Treatment Studies
- Genetics and Neurodevelopmental Disorders
- Urinary and Genital Oncology Studies
- RNA regulation and disease
- Lymphoma Diagnosis and Treatment
- Metastasis and carcinoma case studies
- Cancer Diagnosis and Treatment
- Thyroid Cancer Diagnosis and Treatment
Research Centre for Medical Genetics
2016-2025
Sechenov University
2012-2022
Russian Academy of Sciences
2002-2020
Pirogov Russian National Research Medical University
2019
Institute of Molecular Medicine
2014
Academy of Medical Sciences
2014
Research Institute of Medical Genetics of Russian Academy of Medical Sciences
2000-2013
Ministry of Health of the Russian Federation
2003-2007
Abstract Somatic mutation profiling in gastric cancer (GC) enables main driver mutations to be identified and their clinical prognostic value evaluated. We investigated 77 tumour samples of GC by next-generation sequencing (NGS) with the Ion AmpliSeq Hotspot Panel v2 a custom panel covering six hereditary predisposition genes ( BMPR1A, SMAD4, CDH1, TP53, STK11 PTEN ). Overall, 47 somatic 14 were detected; 22 these novel. Mutations detected most frequently CDH1 (13/47) TP53 (12/47) genes. As...
Abstract Cell transmembrane receptors and extracellular matrix components play a pivotal role in regulating cell activity providing for the concerted integration of cells tissue structures. We have assessed DNA methylation promoter regions eight integrin genes, two nidogen dystroglycan gene normal breast tissues carcinomas (BC). The protein products these genes interact with basement membrane proteins LAMA1, LAMA2, LAMB1; abnormal hypermethylation LAMA1 , LAMA2 LAMB1 promoters BC has been...
Aim: To provide a breast cancer (BC) methylotype classification by genome-wide CpG islands bisulfite DNA sequencing. Materials & methods: XmaI-reduced representation sequencing methylation method was used to profile of 110 BC samples and 6 normal samples. Intrinsic subtypes were elicited unsupervised hierarchical cluster analysis, cluster-specific differentially methylated genes identified. Results conclusion: Overall, six distinct methylotypes cell lines constitute separate group extremely...
Abstract Despite the advantages of neoadjuvant chemotherapy (NACT), associated toxicity is a serious complication that renders monitoring patients’ response to NACT highly important. Thus, prediction tumor treatment imperative avoid exposure potential non-responders deleterious complications. We have performed genome-wide analysis DNA methylation by XmaI-RRBS and selected CpG dinucleotides differential which discriminates luminal B breast cancer samples with different sensitivity NACT. With...
Despite advances in the diagnosis and treatment of breast cancer (BC), main cause deaths is resistance to existing therapies. An approach improve effectiveness therapy patients with aggressive BC subtypes neoadjuvant chemotherapy (NACT). Yet, response NACT for less than 65% according large clinical trials. obvious fact lack biomarkers predicting therapeutic effect NACT. In a search epigenetic markers, we performed genome-wide differential methylation screening by XmaI-RRBS cohorts responders...
Aim: To develop a reduced representation bisulfite sequencing (RRBS) approach for rapid and affordable genome-wide DNA methylation analysis. Methods: We have selected restriction endonuclease XmaI to produce RRBS library fragments. After digestion partial fill-in fragments were ligated barcoded adapters, converted, size-selected, sequenced on the Ion Torrent Personal Genome Machine. XmaI-RRBS results compared with previously published data. Results: developed an method analysis, preparation...
Background: Usher syndrome (USH) is heterogeneous in nature and requires genetic test for diagnosis management. Mutations USH associated genes are reported some populations except Russians. Here, we first time represented the mutation spectrum of a Russian cohort.Methods: Twenty-eight patients with were selected from 3214 Deaf-Blind Support Foundation "Con-nection" during 2014–2016 following observational study NCT03319524. Complete ophthalmologic, ENT, vestibular medical tests done clinical...
Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) substantially contribute to the regulation of intercellular interactions thereby play a role in maintaining structure function. We examined methylation subset 5'-cytosine-phosphate-guanine-3' (CpG) dinucleotides promoter regions MMP2, MMP11, MMP14, MMP15, MMP16, MMP17, MMP21, MMP23B, MMP24, MMP25, MMP28,TIMP1, TIMP2, TIMP3, TIMP4 genes by methylation-sensitive restriction enzyme digestion PCR. In our collection 183 breast...
Hereditary papillary renal carcinoma (HPRC) is a rare autosomal dominant disease characterized by the development of multiple type I cell carcinomas. This hereditary kidney cancer form caused activating mutations in MET. Descriptions patients with HPRC are scarce world literature, and no cases have been described open sources Russia. Here, we describe 28-year-old female Russian patient 7 10 primary carcinomas left right kidneys, respectively. The did not family history any known syndromes. A...
Our aim was to identify RB1 alterations causing hereditary low penetrance retinoblastoma and evaluate how the parental origin of an mutation affects its phenotypic expression. By NGS MLPA, mutations were found in 191 from 332 unrelated patients. Among patients with identified but without clinical family history retinoblastoma, 7% (12/175) have disease one parents being asymptomatic carrier mutation. Additionally, two families history, inherited by probands unaffected parents. Overall, nine...