A5005020061- BRCA gene mutations in cancer
- Histiocytic Disorders and Treatments
- Eosinophilic Disorders and Syndromes
- Digestive system and related health
- Breast Cancer Treatment Studies
- Cancer therapeutics and mechanisms
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Sarcoidosis and Beryllium Toxicity Research
- Ferroptosis and cancer prognosis
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Ion channel regulation and function
- Extracellular vesicles in disease
- Advanced Breast Cancer Therapies
- Neuroblastoma Research and Treatments
Ministry of Health of the Russian Federation
2020-2024
Erdheim–Chester disease (ECD) is a rare and frequently neglected disease, usually with poor prognosis. The first two cases of ECD were reported by Austrian pathologist: Jakob Erdheim his apprentice student William Chester in 1930. etiology incidence are unknown. One the main components this disorder chronic uncontrollable inflammation. Clinical manifestations can be very different. affects predominantly adults, male population. There no effective treatment developed yet. In 2016 was...
Introduction. Local hypermethylation of gene promoters and global genome hypomethylation are well-known manifestations aberrant methylation associated with carcinogenesis. We investigated this phenomenon as a possible diagnostic marker for liquid biopsy colorectal cancer using the original quantitative DNA melting analysis hybridiza-tion probes (qDMA-HP) method. Aim. To quantify HIST1H4F promoter LINE-1 transposon in circulating blood plasma patients. Materials methods. Bisulfite-treated...
Neuroblastoma (NB) is the most common extracranial solid tumor of childhood, accounting for 6—10 % all malignant neoplasms in children. One fundamentally important problems clinician stratification risk group and definition treatment tactics patients with NB. In this work, we studied dependence expression CRABP1 protein primary focus metastases on type genetic disorders (amplification MYCN gene, deletion 11q23 locus) effect therapy
Erdheim–Chester disease (ECD) is a rare with poor prognosis. The first two cases were reported by Jakob Erdheim and William Chester in 1930. etiology incidence are unknown. One of the main components this disorder chronic uncontrollable inflammation. In 2016 ECD was classified as histiocytic neoplasm World Health Organization categorized “tumors histiocytes dendritic cells”. More than half patients testing positive for BRAF mutation. final diagnosis made on basis histological finding. There...
Background: germline mutations in the BRCA1 and BRCA2 genes are associated with a high risk of developing cancer various localizations. Currently, determination BRCA status such patients is important for choosing surgical tactics determining indications administration multiple chemotherapy drugs. Aim: to evaluate results mass genetic screening types malignant neoplasms (MN). Patients Methods: 5043 who reviewed study. The had following diagnoses: breast (BC, n=4216), ovarian (OC, n=481),...
Background. According to the literature, BRCA1-associated breast cancer (BC) most often belongs triple negative (TNBC) molecular subtype. The data on contribution of other subtypes this group patients differ among different studies. study objective is evaluate frequency tumor in BC with BRCA1 gene mutation treated N. Blokhin National Medical Research Center Oncology period from 2017 2020. Materials and methods. included a (n = 209) identified as result screening BC. DNA diagnostics was...