Stefan Enroth – Enabling precision detection and diagnostics of gynaecological cancers by harnessing the potential of self-sampling

Our research projects aim at finding biomarkers for gynecological cancer, mainly ovarian cancer in multiple settings; from early detection to detection of relapse after treatment. To facilitate future clinical use of the results, one of our clear goals is to use sample types that are suitable for self-sampling, even at home.
Today, detection of ovarian cancer is largely symptom-driven, leading to that a majority of cancers are detected late. This results in a low five-year survival.
In order not to miss any cancers among symptomatic women, surgery is often used as a final diagnostic method. In Sweden, 80% of those who undergo surgery after suspicion of cancer have benign diagnoses. The surgery itself is not risk-free, and a significant proportion of women with benign diagnoses experience complications.
In case of a malignant tumour, radical surgery in combination with chemotherapy is currently the most effective treatment. However, still about 50% of women relapse within two years of completed treatment. New, accurate ways to detect the cancer are therefore needed; for earlier detection, for diagnosis and for detection of relapse.
Computer-based analyses for biomarker discovery
Our research has a clear data-driven focus and focuses on computer-based analyses of so-called multi-omics data. Through collaboration with clinicians, primarily in Uppsala and Gothenburg, several well-documented sample collections are underway. They often contain several different sample types from the same patient ranging from plasma, tissue samples, dried self-sampled blood from a finger-prick to dried self-sampled vaginal fluid.
Our data analyses include DNA sequencing, RNA sequencing, proteomics and microbiome analyses. A related area of our research is mapping variance in biomarkers that are not directly linked to disease. In these projects, we look at, for example, how genetics or lifestyle variables affect biomarker levels in healthy individuals. The aim is to be able to adjust for that variation also in patients, or discard markers that we know a priori vary greatly with, for example, age or weight, or that are not stable in a certain type of sample handling.
Group members
Publications
Part of Communications Medicine, 2025
- DOI for Deep plasma proteomics identifies and validates an eight-protein biomarker panel that separate benign from malignant tumors in ovarian cancer
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Part of Nature Genetics, p. 778-791, 2024
- DOI for Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
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Part of Scientific Reports, 2024
- DOI for Large-scale proteomics reveals precise biomarkers for detection of ovarian cancer in symptomatic women
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Part of Kidney international reports, p. 1849-1859, 2024
- DOI for Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure
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The genetic landscape of neuro-related proteins in human plasma
Part of Nature Human Behaviour, p. 2222-2234, 2024
Part of iScience, 2024
- DOI for Toward ovarian cancer screening with protein biomarkers using dried, self-sampled cervico-vaginal fluid
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Part of Forensic Science International, 2023
- DOI for Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins
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Part of Stroke, p. 810-818, 2023
- DOI for Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity
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Part of Nature Immunology, p. 1540-1551, 2023
- DOI for Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
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The association between genetically elevated polyunsaturated fatty acids and risk of cancer.
Part of EBioMedicine, 2023
- DOI for The association between genetically elevated polyunsaturated fatty acids and risk of cancer.
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Part of Nature Communications, 2022
- DOI for Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability
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Part of Communications Medicine, 2022
- DOI for Data-driven analysis of a validated risk score for ovarian cancer identifies clinically distinct patterns during follow-up and treatment
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Genetic Landscape of the ACE2 Coronavirus Receptor
Part of Circulation, p. 1398-1411, 2022
- DOI for Genetic Landscape of the ACE2 Coronavirus Receptor
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Part of Nature Genetics, p. 1332-1344, 2022
- DOI for Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
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Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer.
Part of Cancers, 2022
- DOI for Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer.
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Part of Environment International, 2021
- DOI for Distinct genetic regions are associated with differential population susceptibility to chemical exposures
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Part of Bioessays, 2021
Part of Cancers, 2021
- DOI for Identification of Candidate Protein Biomarkers for CIN2+ Lesions from Self-Sampled, Dried Cervico-Vaginal Fluid Using LC-MS/MS
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021
- DOI for Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Part of medRxiv : the preprint server for health sciences, p. 1-28, 2021
Part of Cancers, 2021
Part of Genes, 2021
- DOI for Transcriptome analysis of post-mortem brain tissue reveals up-regulation of the complement cascade in a subgroup of schizophrenia patients
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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Part of Nature Metabolism, p. 1135-1148, 2020
Preoperative Fasting and General Anaesthesia Alter the Plasma Proteome
Part of Cancers, 2020
- DOI for Preoperative Fasting and General Anaesthesia Alter the Plasma Proteome
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Part of Virology Journal, 2020
- DOI for Temporal changes in the vaginal microbiota in self-samples and its association with persistent HPV16 infection and CIN2+
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Part of Virology Journal, 2019
- DOI for Clinical validation of the HPVIR high-risk HPV test on cervical samples according to the international guidelines for human papillomavirus DNA test requirements for cervical cancer screening
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Part of Nature Genetics, p. 494-505, 2019
Part of Communications Biology, 2019
- DOI for High throughput proteomics identifies a high-accuracy 11 plasma protein biomarker signature for ovarian cancer
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Part of Virology Journal, 2019
- DOI for HPV viral load in self-collected vaginal fluid samples as predictor for presence of cervical intraepithelial neoplasia.
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Part of Molecular & Cellular Proteomics, p. 735-743, 2019
Part of Scientific Reports, 2019
- DOI for Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers
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Part of Carcinogenesis, p. 269-278, 2019
Part of Nature Genetics, p. 481-493, 2019
Part of International Journal of Cancer, p. 89-97, 2019
Part of Frontiers in Genetics, 2018
- DOI for A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood
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Part of Clinical Proteomics, 2018
- DOI for A two-step strategy for identification of plasma protein biomarkers for endometrial and ovarian cancer
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Part of Nature Genetics, p. 1412-1425, 2018
Genetic variants influencing phenotypic variance heterogeneity
Part of Human Molecular Genetics, p. 799-810, 2018
Genomewide binding of transcription factor Snail1 in triple-negative breast cancer cells
Part of Molecular Oncology, p. 1153-1174, 2018
- DOI for Genomewide binding of transcription factor Snail1 in triple-negative breast cancer cells
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Genome-wide binding of transcription factor ZEB1 in triple-negative breast cancer cells
Part of Journal of Cellular Physiology, p. 7113-7127, 2018
- DOI for Genome-wide binding of transcription factor ZEB1 in triple-negative breast cancer cells
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Meta-analysis of exome array data identifies six novel genetic loci for lung function.
Part of Wellcome open research, 2018
Part of British Journal of Cancer, p. 896-904, 2018
- DOI for Randomised study shows that repeated self-sampling and HPV test has more than two-fold higher detection rate of women with CIN2+ histology than Pap smear cytology
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Part of Scientific Reports, 2018
- DOI for Systemic and specific effects of antihypertensive and lipid-lowering medication on plasma protein biomarkers for cardiovascular diseases
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Part of Scientific Reports, 2018
- DOI for Targeted plasma proteomics identifies a novel, robust association between cornulin and Swedish moist snuff
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1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Part of Scientific Reports, 2017
- DOI for 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
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Evidence for large-scale gene-by-smoking interaction effects on pulmonary function
Part of International Journal of Epidemiology, p. 894-904, 2017
- DOI for Evidence for large-scale gene-by-smoking interaction effects on pulmonary function
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Part of Nature Genetics, p. 416-425, 2017
Part of Nature Genetics, p. 403-415, 2017
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Part of PLOS Genetics, 2017
- DOI for Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
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Part of Hypertension, 2017
PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c
Part of Nucleic Acids Research, p. 2408-2422, 2017
Stability of Proteins in Dried Blood Spot Biobanks.
Part of Molecular & Cellular Proteomics, p. 1286-1296, 2017
- DOI for Stability of Proteins in Dried Blood Spot Biobanks.
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Part of PLOS Genetics, 2017
- DOI for The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
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Part of EBioMedicine, p. 309-314, 2016
- DOI for Effects of Long-Term Storage Time and Original Sampling Month on Biobank Plasma Protein Concentrations
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Part of Human Molecular Genetics, p. 4739-4748, 2016
Part of Nature Communications, 2016
- DOI for Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
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Part of Human Molecular Genetics, p. 817-827, 2016
Part of Oncotarget, p. 6809-6923, 2016
Growth signals employ CGGBP1 to suppress transcription of Alu-SINEs
Part of Cell Cycle, p. 1558-1571, 2016
- DOI for Growth signals employ CGGBP1 to suppress transcription of Alu-SINEs
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Part of Proceedings of the National Academy of Sciences of the United States of America, p. 14372-14377, 2016
Part of Oncotarget, p. 42216-42224, 2016
Part of Journal of Circulating Biomarkers, 2016
Part of Nature Genetics, p. 1171-1184, 2016
Directional dominance on stature and cognition in diverse human populations
Part of Nature, p. 459-462, 2015
Part of Biomarkers, p. 355-364, 2015
Homozygous loss-of-function variants in European cosmopolitan and isolate populations
Part of Human Molecular Genetics, p. 5464-5475, 2015
- DOI for Homozygous loss-of-function variants in European cosmopolitan and isolate populations
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Part of Nature Communications, 2015
- DOI for MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA-DNA triplex structures
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Protein profiling reveals consequences of lifestyle choices on predicted biological aging
Part of Scientific Reports, 2015
Protein profiling reveals consequences of lifestyle choices on predicted biological aging
Part of Scientific Reports, 2015
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
Part of Nature Communications, 2015
- DOI for Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
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Part of PLOS Genetics, 2015
- DOI for The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
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Part of Blood, 2014
Part of Database, 2014
Genome-wide association analysis identifies six new loci associated with forced vital capacity
Part of Nature Genetics, p. 669-677, 2014
Nucleosome regulatory dynamics in response to TGF beta
Part of Nucleic Acids Research, p. 6921-6934, 2014
Nucleosome regulatory dynamics in response to TGF-beta treatment in HepG2 cells
Part of Nucleic Acids Research, p. 6921-6934, 2014
Part of Human Molecular Genetics, p. 6047-6060, 2014
Part of Nature Communications, p. 4684, 2014
Part of Carcinogenesis, p. 2084-2088, 2014
Part of International Journal of Circumpolar Health, p. 516-517, 2013
Part of PLOS Genetics, 2013
- DOI for Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels
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Continuous Aging of the Human DNA Methylome Throughout the Human Lifespan
Part of PLOS ONE, 2013
- DOI for Continuous Aging of the Human DNA Methylome Throughout the Human Lifespan
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Genome-wide Association Study of Susceptibility Loci for Cervical Cancer
Part of Journal of the National Cancer Institute, p. 624-633, 2013
Identification of genetic variants influencing the human plasma proteome
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 4673-4678, 2013
Part of International Journal of Circumpolar Health, p. 511-512, 2013
Peak Finder Metaserver - a novel application for finding peaks in ChIP-seq data
Part of BMC Bioinformatics, p. 280, 2013
- DOI for Peak Finder Metaserver - a novel application for finding peaks in ChIP-seq data
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Part of International Journal of Circumpolar Health, p. 21403, 2013
- DOI for Prevalence and sensitization of atopic allergy and coeliac disease in the Northern Sweden Population Health Study
- Download full text (pdf) of Prevalence and sensitization of atopic allergy and coeliac disease in the Northern Sweden Population Health Study
Part of Algorithms for Molecular Biology, p. 2, 2012
- DOI for A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements
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Combinations of histone modifications mark exon inclusion levels
Part of PLOS ONE, 2012
- DOI for Combinations of histone modifications mark exon inclusion levels
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Part of American Journal of Human Genetics, p. 809-820, 2012
Long noncoding RNA-mediated maintenance of DNA methylation and transcriptional gene silencing
Part of Development, p. 2792-2803, 2012
Part of BMC Cancer, p. 450, 2011
- DOI for Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa
- Download full text (pdf) of Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa
Integrative epigenomic and genomic analysis of malignant pheochromocytoma
Part of Experimental and Molecular Medicine, p. 484-502, 2010
SICTIN: Rapid footprinting of massively parallel sequencing data
Part of BioData Mining, 2010
- DOI for SICTIN: Rapid footprinting of massively parallel sequencing data
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Part of Epigenetics, p. 107-113, 2009
Part of Nucleic Acids Research, p. 7498-7508, 2009
Part of Nucleic Acids Research, p. 7498-7508, 2009
Part of The FEBS Journal, p. 1878-1890, 2009
Nucleosomes are well positioned in exons and carry characteristic histone modifications
Part of Genome Research, p. 1732-1741, 2009
Part of Molecular Cell, p. 232-46, 2008