A5039561066- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- Cancer Cells and Metastasis
- Digestive system and related health
- Multiple and Secondary Primary Cancers
- Genomics and Phylogenetic Studies
- Environmental DNA in Biodiversity Studies
- Intraperitoneal and Appendiceal Malignancies
- Gastric Cancer Management and Outcomes
- Protist diversity and phylogeny
- Cancer Research and Treatments
- Colorectal and Anal Carcinomas
- Hepatocellular Carcinoma Treatment and Prognosis
- Appendicitis Diagnosis and Management
- Radiomics and Machine Learning in Medical Imaging
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- Ferroptosis and cancer prognosis
- Metastasis and carcinoma case studies
- Neuroendocrine Tumor Research Advances
- Hernia repair and management
- Wnt/β-catenin signaling in development and cancer
- Chromosomal and Genetic Variations
State Scientific Center of Coloproctology
2015-2024
Ministry of Health of the Russian Federation
2020
Academy of Medical Sciences
2014
Colorectal cancer is highly metastatic even when the tumors are small. To disseminate, cells use a complex and multistage process known as epithelial-mesenchymal transition, in which epithelial phenotype transformed into mesenchymal phenotype. The objective of this study to describe transition terms gene expression profile somatic alterations samples colorectal with or without peritoneal carcinomatosis. We analyzed taken from 38 patients (stages II-IV) 20 complicated by ZEB1, ZEB2, CDH1, VIM...
Colorectal cancer (CRC) is the third in prevalence among oncological diseases worldwide and second structure of mortality. Genetic assessment CRC a necessary stage during selecting further treatment for patients. Many studies demonstrate diverse distribution mutations KRAS, NRAS, BRAF genes CRC. A critical literature review was conducted order to systematize data on mutational profile genetic heterogeneity these driver Russian patients with Articles were searched open databases. Totally 17 3...
Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps. Materials and methods. A search mutations in the MutYH gene was carried out using PCR, electrophoresis direct sequencing methods among following groups of people: 18 patients under 45 years old with more than 100 polyps diagnosed large intestine; 86 over 4–100 polyps; 150 people control group. Results. Mutations were detected 2 having Among polyps, found 10 20 not...
AIM. To assess results of cytoreductive surgery (CRS) and intraperitoneal intraoperative chemotherapy (IIC) in patients with peritoneal carcinomatosis (PC) PC recurrence (PCR) colorectal origin. METHOD. 76 were treated by mitomycine C (20 mg/m 2 ). In 57 (75 %) pts. was synchronous. The median PCI - 3 (2; 6) (1-23). There 15/76 potentially resectable distant liver lung metastases. RESULTS. Complications occurred 15 Mortality rate 1,3 %. first PCR developed 34 (45 time after -11 (9; 19)...
AIM: to identify the genotype-phenotype correlation in children with familial adenomatous polyposis (FAP) and assess risk of surgery. PATIENTS AND METODS: a retrospective study included FAP from January 2000 December 2023. For analysis they were divided two groups (“severe” “non-severe” genotype) according results genetics. RESULTS: forty-two patients 36 families study. Statistical revealed that mean age at time surgery was significantly different 13 ± 4 years “severe” genotype group vs. 16...
Objective — Lynch syndrome is the most common hereditary cancer caused by pathogenic variants in MMR/EPCAM genes. Our goal was to study germline of these genes largest sample patients with Russia. Methods The included data on and likely collected from local Registry Hereditary Colorectal Cancer Ryzhikh National Medical Research Centre for Coloproctology (RNMRCC). We analyzed all available 141 probands syndrome: 78 men 63 women aged 21 80 years treated at RNMRCC 2012 through 2023. Results...
BACKGROUND: to find predictive value of KRAS gene’s copy number variation (CNV_KRAS) anti-EGFR therapy.PATIENTS AND METHODS: a prospective cohort single-center study included 150 patients, 103 patients with colorectal cancer (CRC) and wild-type RAS/BRAF, 39 somatic mutations in the gene, as well 8 non-oncological (as normal controls). CNV_KRAS was determined using digital droplet PCR.RESULTS: clinically significant level ≥ 9 copies established for refusal targeted therapy. The incidence...
The most frequent forms of hereditary colorectal cancer syndromes are Lynch syndrome and familial adenomatous polyposis (FAP). All the patients with suspicion to these need precise clinical genetic diagnostics. Affected personalized program treatment because standard algorithm cannot be considered sufficiently effective. Identification a pathogenic mutation in patient indicates for DNA diagnostics his close relatives only this case all carriers germline mutations can included high-risk...
Purpose: to evaluate the effect of somatic mutations KRAS, NRAS, BRAF genes and status microsatellite instability on overall disease-free survival patients undergoing cytoreductive surgery with hyperthermic intraperitoneal chemotherapy. Material Methods . From 2012 2018, study included 45 who underwent for synchronous peritoneal carcinomatosis colorectal cancer. In all patients, MSI tumor peritoneum metastases were determined using Sanger sequencing, fragment analysis digital droplet...
Abstract Background Retroelements (REs) occupy a significant part of all eukaryotic genomes including humans. The majority retroelements in the human genome are inactive and unable to retrotranspose. Dozens active copies repressed most normal tissues by various cellular mechanisms. These can become germline brain or cancer, leading new retroposition events. consequences such events their role cell functioning carcinogenesis not yet fully understood. If insertions occur small portion cells...
Lynch syndrome is a hereditary colorectal cancer caused by mutations in the DNA repair system genes. We studied clinical and genetic characteristics of 27 Russian patients with syndrome. Germinal were found genes MLH1 (14 patients), MSH2 (11 patients) MSH6 (2 patients). Eight have not been described previously. The features this group consisted early average age first - 36.7 years, predominant (72.4%) damage left colon, occurs most (70.6%) metachronous tumors for 10 years after previous...
Introduction: local treatment of metastases is an integral part colon cancer treatment. However, there not enough data on the efficacy surgical resection in patients with a BRAF gene mutation to recom‑mend this approach routine practice. We initiated retrospective multicenter study assess incidence mutations metastatic and metastasectomy group patients. Materials methods: we selected all who underwent various sites from database created as result participation 7 clinics Russian Federation....
One of the main problems in treatment peritoneal carcinomatosis (PC) colorectal cancer (CRC) is adequate selection patients for cytoreductive surgery (CS) and hyperthermic intraperitoneal chemotherapy (HIPEC).To determine predictive factors overall (OS) disease-free survival (DFS) CRC with PC after CS HIPEC.From 2010 to 2018 years 102 were included study. The cytoreduction was complete (CC0, according Sugabaker scale) 96 (94.2%) cases. age median 65 years. There 63 (62%) women. In 81 (79%)...
The paper concerns the molecular and genetic markers of breast cancer (BC). For practice use it is expedient to limit a BC expression analysis panel with VEGFR 1, 2, VEGF 121, PDGFR, mTOR, Her-2/neu, Ki-67, BRCA ESR Ostp, BIRC 2 5 genes accelerate test reduce its cost simplify interpretation by physicians. These 12 carry basic information that required choose predict chemotherapy response serves as prognostic markers, indicating potential therapeutic targets.
We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia Lynch syndrome. Molecular genetic research carried out various methods (NGS, Sanger sequencing, aCGH, MLPA) revealed pathogenic nonsense variant in MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well new deletion chromosome 15’s locus capture 82,662,932–84,816,747 bp...
AIM : to evaluate the genetic and clinical characteristics of Russian patients with Lynch syndrome. PATIENTS AND METHODS in period from 2012 2019, suspected syndrome were studied, according selection recommendations (Amsterdam II original criteria). All underwent a microsatellite instability test tumor, if it was detected, for germline mutations genes MMR system. standard procedures (colonoscopy, gastroscopy, CT, MRI, etc.). RESULTS genetically confirmed 60 unrelated (included 30 women men,...