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View article: The Estonian Biobank’s journey from biobanking to personalized medicine
The Estonian Biobank’s journey from biobanking to personalized medicine Open
Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, …
View article: Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores
Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores Open
Background/Objectives: Polygenic risk scores (PRSs) have been extensively studied and are increasingly applied in healthcare. One of the most studied and developed areas is predictive medicine for breast cancer, but there is no wider conse…
View article: Use of Estonian Biobank data and participant recall to improve Wilson’s disease management
Use of Estonian Biobank data and participant recall to improve Wilson’s disease management Open
Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson’s disease (WD) is a rare genetic copp…
View article: Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Score
Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Score Open
Background/Objectives: Polygenic risk scores (PRSs) have been extensively studied and are in-creasingly applied in healthcare. One of the most studied and developed areas is predictive med-icine for breast cancer, but there is no wider con…
View article: An implementation study of the service model for genetic risk-based stratified breast cancer screening – Estonian results of the BRIGHT project
An implementation study of the service model for genetic risk-based stratified breast cancer screening – Estonian results of the BRIGHT project Open
Breast cancer (BC) remains the most common malignant tumor site and the leading cause of cancer-related deaths in women despite the wide availability of screening programs and personalized treatment options. The BRIGHT study tested a genet…
View article: From Biobanking to Personalized Medicine: the journey of the Estonian Biobank
From Biobanking to Personalized Medicine: the journey of the Estonian Biobank Open
Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalised medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, …
View article: Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis
Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis Open
Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition of childhood. Temporomandibular joint (TMJ) is among the most commonly affected joints in JIA patients. When JIA involves the TMJ, it may affect …
View article: Use of Estonian Biobank Data and Participant Recall to Improve Wilson’s Disease Management
Use of Estonian Biobank Data and Participant Recall to Improve Wilson’s Disease Management Open
Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson’s disease (WD) is a rare genetic copp…
View article: The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population Open
Background: Lynch syndrome (LS) is the most frequent genetically pre-disposed colorectal cancer (CRC) syndrome, accounting for 2–3% of all CRC cases. In Estonia, ~1000 new cases are diagnosed each year. This retroactive and prospective stu…
View article: Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice
Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice Open
Background: Breast cancer (BC) screening with mammography reduces mortality but considers currently only age as a risk factor. Personalized risk-based screening has been proposed as a more efficient alternative. For that, risk prediction t…
View article: Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting Open
Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describ…
View article: Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia Open
Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related g…
View article: Prognostic Utility of Targeted Circulating Cell-Free DNA versus Formalin-Fixed Paraffin-Embedded DNA Mutation Analysis for Advanced Lung Cancer
Prognostic Utility of Targeted Circulating Cell-Free DNA versus Formalin-Fixed Paraffin-Embedded DNA Mutation Analysis for Advanced Lung Cancer Open
Cancer burden is a globally growing problem. Early diagnosis and targeted treatment decrease patients' death rate, pain, and treatment expenses. Liquid biopsy can be used for early cancer detection, treatment selection, and progression and…
View article: Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report Open
Background Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence …
View article: Recommendations for Primary Prevention of Skin Melanoma
Recommendations for Primary Prevention of Skin Melanoma Open
Melanoma (MEL) is an aggressive form of skin cancer, causing over 60,000 deaths every year and it is considered one of the fastest-growing cancer forms. Genome-wide association studies have identified numerous genetic variants (SNPs) indep…
View article: Precision Prostate Cancer Screening with a Polygenic Risk Score
Precision Prostate Cancer Screening with a Polygenic Risk Score Open
Prostate cancer (PC) is the second-most common type of cancer and the fifth-leading cause of cancer-related death in men worldwide. Genome-wide association studies have identified numerous genetic variants (SNPs) independently associated w…
View article: Precision Colorectal Cancer Screening with Polygenic Risk Score
Precision Colorectal Cancer Screening with Polygenic Risk Score Open
Colorectal cancer (CRC) is the second most common cancer in women and third most common cancer in men. Genome-wide association studies have identified numerous genetic variants (SNPs) independently associated with CRC. The effects of such …
View article: Precision Breast Cancer Screening with a Polygenic Risk Score
Precision Breast Cancer Screening with a Polygenic Risk Score Open
Breast cancer (BC) is the leading cause of cancer deaths in women in the world. Genome-wide association studies have identified numerous genetic variants (SNPs) independently associated with BC. The effects of such SNPs can be combined int…
View article: Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants Open
Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1 / 2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the …
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Issue Information Open
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View article: Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification
Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification Open
We have shown that metaGRS2, that combined on the effects of more than 900 SNPs, provided best predictive ability for breast cancer in two different population-based cohorts. The strength of the effect of metaGRS2 indicates that the GRS co…
View article: Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics
Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics Open
Most patients with pancreatic cancer present with advanced disease and die within the first year after diagnosis. Predictive biomarkers that signal the presence of pancreatic cancer in an early stage are desperately needed. We aimed to ide…
View article: Search for early pancreatic cancer blood biomarkers in five European prospective population biobanks using metabolomics
Search for early pancreatic cancer blood biomarkers in five European prospective population biobanks using metabolomics Open
Background and aim Most patients with pancreatic cancer present with advanced disease and die within the first year after diagnosis. Predictive biomarkers that signal the presence of pancreatic cancer in an early stage are desperately need…