A5017542310- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Blood Coagulation and Thrombosis Mechanisms
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- Neonatal Respiratory Health Research
- Pregnancy and preeclampsia studies
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Hearing, Cochlea, Tinnitus, Genetics
- Tracheal and airway disorders
- Muscle Physiology and Disorders
- Ion Transport and Channel Regulation
- Congenital Anomalies and Fetal Surgery
- Chronic Lymphocytic Leukemia Research
- Migraine and Headache Studies
Tartu University Hospital
2013-2025
University of Tartu
2013-2025
Radboud University Nijmegen
2024
Radboud University Medical Center
2024
Tallinn Health Care College
2022
Epilepsy Society
2022
Estonian Biocentre
2004
Purpose: Females with biallelic CHEK2 germline pathogenic variants (gPVs) more often develop multiple breast cancers than individuals monoallelic gPVs.This study is aimed at expanding the knowledge on occurrence of other malignancies.Methods: Exome sequencing who developed primary malignancies identified three (NM_007194.4)c.1100del p.(Thr367MetfsTer15) loss-of-function gPV in a state.We collected phenotypes an additional cohort gPVs (n=291).Results: In total, 157 (53.4%; 157/294...
PIK3CA related disorders (PRD, OMIM: *171834) are genetic resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during post-zygotic phase, leading to broad spectrum of overgrowth vascular malformations affecting various body regions. Conventional diagnostic methods struggle detect confirm gene due nature these limited accessibility affected tissues. In this study, we conducted...
Abstract In chronic lymphocytic leukemia, the reliability of next‐generation sequencing (NGS) to detect TP53 variants ≤10% allelic frequency (low‐VAF) is debated. We tested ability 23 such in 41 different laboratories using their NGS method choice. The sensitivity was 85.6%, 94.5%, and 94.8% at 1%, 2%, 3% VAF cut‐off, respectively. While only one false positive (FP) result reported >2% VAF, it more challenging distinguish true <2% from background noise (37 FPs by 9 laboratories)....
It is unknown why some infants with perinatal stroke present clinical symptoms late during infancy and will be identified as presumed stroke. The risk factors radiological data of 42 (69% periventricular venous infarction 31% arterial ischemic stroke) from the Estonian Pediatric Stroke Database were reviewed. Children born at term in 95% cases had no pregnancy 43% cases. significantly more often (82%) vaginally ( P = .0213) compared to children (42%); nor did they require resuscitation...
Summary Androgen receptor ( AR ) is a transcription factor that activated upon binding to testosterone (T) and implicated in regulating the expression of reproduction‐related genes. The human gene (Xq11‐12) spans 186,588 bp eight exons. N‐terminal transactivation domain encoded protein harbours two polymorphic stretches identical amino acids, polyglutamine tract (encoded by 8‐37 CAG ‐repeats) polyglycine 10‐30 GGN ‐repeats). We set forward analyse independent combinatory effects length these...
Background In addition to whole exomes, large gene panels of clinically associated genes are used as high‐throughput sequencing tests in many clinical centers, but their utility has been much less investigated. Materials and Methods Here we report the results 501 first unselected cases for whom TruSight One panel (Illumina Inc., San Diego, California) was sequenced a diagnostic test variety indications our department. The analysis restricted virtual subpanels based on referral forms, where...
Congenital disorders of glycosylation (CDG) are a widely acknowledged group metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with prevalence as high one in 20,000. In contrast, other types remains unknown. This study aimed to analyze estimated different N-linked protein disorders. We extracted allele frequencies for diverse populations from The Genome Aggregation Database (gnomAD), encompassing variant frequency information 141,456 individuals. To identify pathogenic...
Abstract In 2000–2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader–Willi (PWS) aiming to establish the prevalence data born between 1984 2004 in Estonia. All persons probable AS or PWS (n = 184) were studied using DNA methylation test. Individuals abnormal all further tested by chromosomal FISH analysis, if necessary uniparental disomy UBE3A gene mutation. Nineteen cases test result identified. Seven of them had AS, including six (85.7%) due 15q11‐13...
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where imprinting control regions (ICR) fetal postnatal growth. Also, many submicroscopic disturbances like duplications 11p15 have been described among SRS BWS patients. Duplications involving ICRs or BWS, depending on which parent the aberration inherited from. We describe to our...
Abstract Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment biochemical pathway is intrinsic to pathophysiology disease. Estonia's small population and nationwide digitalised healthcare system make it possible perform an epidemiological study that covers whole population. A was performed in Tartu University Hospital, which only tertiary care unit Estonia for diagnosing patients with IMD, define prevalence live birth IMDs effectiveness new diagnostic...
The aim of our study was to evaluate the prevalence long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in general Estonian population and among patients with symptoms suggestive fatty acid oxidation (FAO) defects. We collected DNA from a cohort 1,040 anonymous newborn blood spot samples. screened these samples for presence common c.1528G>C mutation HADHA gene. Based on clinical suspicion FAO defects, we suspected individuals since 2004 gene 2008 addition by tandem mass...
Although hereditary breast cancer screening and management are well accepted established in clinical settings, these efforts result the detection of only a fraction genetic predisposition at population level. Here, we describe our experience from national pilot study (2018-2021) which 180 female participants Estonian biobank (of >150,000 total) were re-contacted to discuss personalized prevention measures based on their defined by 11 cancer-related genes. Our results show that risk variants...
Abstract Breast cancer (BC) remains the most common malignant tumor site and leading cause of cancer-related deaths in women despite wide availability screening programs personalized treatment options. The BRIGHT study tested a genetic risk-based BC service model younger than 50 years, using telemedicine home-based testing. Participants underwent polygenic risk score monogenic pathogenic variant This type demonstrated feasibility, clinical utility, acceptability. It has potential to enhance...
The aim of this study is to establish the prevalence fragile X syndrome among Estonian mentally retarded and also entire children's population born during years 1984-2005. group consisted 516 patients (448 boys 68 girls) who were screened for full mutations in FMR1 gene period 1997-2006. Fourteen (2.7%) found with total individuals tested (3.1% boys); mutation was not detected girls. live-birth 1:13 947. overall 1:27 115. It that Estonia same as previous studies, but significantly lower.