Jan Dumanski – Molekylär onkologi
The overarching aim of our research is to understand the fundamental principles underlying the occurrence of post-zygotic mutations (somatic mosaicism) and their impact on human health. In particular, we are focused on the loss of chromosome Y (LOY), a phenomenon that arises mainly in the white blood cells of elderly men.
We work with translational disease-related projects and with questions addressing the consequences of somatic variation in normal human cells. With an emphasis on structural genetic variation, which is known as a dominating type of human inter-individual variation.
- Our specific projects are:
- Mosaic loss of chromosome Y (LOY) in blood cells is associated with more severe COVID-19, as well as higher mortality, risk for cancer and Alzheimer’s disease in men.
- Post-zygotic genetic variation: studies of human aging/longevity and age-associated aberrations
- Novel bio-markers for breast cancer; disease prediction and progression
Publications
Loss of chromosome Y in regulatory T cells
Part of BMC Genomics, 2024
- DOI for Loss of chromosome Y in regulatory T cells
- Download full text (pdf) of Loss of chromosome Y in regulatory T cells
Part of Scientific Reports, 2024
- DOI for Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases
- Download full text (pdf) of Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases
Part of Biomarker Insights, 2024
- DOI for Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation
- Download full text (pdf) of Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation
Part of Cancers, 2024
- DOI for Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium
- Download full text (pdf) of Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
Part of Stroke, p. 2434-2437, 2023
- DOI for Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
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Plasma protein changes reflect colorectal cancer development and associated inflammation
Part of Frontiers in Oncology, 2023
- DOI for Plasma protein changes reflect colorectal cancer development and associated inflammation
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Size matters: the impact of nucleus size on results from spatial transcriptomics
Part of Journal of Translational Medicine, 2023
- DOI for Size matters: the impact of nucleus size on results from spatial transcriptomics
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Part of PLOS ONE, 2022
- DOI for Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition
- Download full text (pdf) of Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition
Part of npj Breast Cancer, 2022
- DOI for High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
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Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
Part of Leukemia, p. 889-891, 2022
- DOI for Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
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Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Part of Genome Medicine, 2022
- DOI for Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
- Download full text (pdf) of Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Part of Scientific Reports, 2022
- DOI for Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
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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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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Part of Scientific Reports, 2021
- DOI for Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
- Download full text (pdf) of Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Part of Molecular Genetics & Genomic Medicine, 2021
- DOI for Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
- Download full text (pdf) of Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
Part of European Journal of Human Genetics, p. 349-357, 2020
- DOI for Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
- Download full text (pdf) of Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
Part of Polish Journal of Pathology, p. 46-54, 2020
- DOI for The Level Of Myeloid Derived-Suppressor Cells In Peripheral Blood Of Patients With Prostate Cancer After Various Types Of Therapy
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Genetic predisposition to mosaic Y chromosome loss in blood
Part of Nature, p. 652-657, 2019
Mosaic loss of chromosome Y in leukocytes matters
Part of Nature Genetics, p. 4-7, 2019
Part of Leukemia, p. 1184-1194, 2019
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
Part of Endocrine-Related Cancer, p. 427-443, 2017
- DOI for A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
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Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events
Part of Circulation, 2017
Mosaicism in health and disease — clones picking up speed
Part of Nature reviews genetics, p. 128-142, 2017
Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content
Part of Histopathology, p. 411-421, 2016
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Part of American Journal of Human Genetics, p. 1208-1219, 2016
- DOI for Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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Part of Human Mutation, p. 1088-1099, 2015
Part of Leukemia, p. 1600-1602, 2015
Mutagenesis: smoking is associated with mosaic loss of chromosome Y
Part of Science, p. 81-83, 2015
Part of Leukemia, p. 2069-2074, 2015
Part of Genome Research, p. 1521-1535, 2015
- DOI for Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
- Download full text (pdf) of Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
Part of Nature Genetics, p. 624-628, 2014
Part of BMC Cancer, p. 231, 2013
- DOI for Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation
- Download full text (pdf) of Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation
Part of Journal of Medical Genetics, p. 1-10, 2013
Part of Postgraduate medical journal, p. 417-426, 2013
- DOI for Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)
- Download full text (pdf) of Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)
Part of PLOS ONE, 2013
- DOI for Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
- Download full text (pdf) of Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
Age-related somatic structural changes in the nuclear genome of human blood cells
Part of American Journal of Human Genetics, p. 217-228, 2012
Procoagulant activity in patients with sickle cell trait
Part of Blood Coagulation and Fibrinolysis, p. 268-270, 2012
Part of Genes, Chromosomes and Cancer, p. 82-94, 2011
Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma
Part of International Journal of Cancer, p. 1390-1402, 2010
Part of European Journal of Human Genetics, p. 560-568, 2010
Integrative epigenomic and genomic analysis of malignant pheochromocytoma.
Part of Experimental and Molecular Medicine, p. 484-502, 2010
Integrative epigenomic and genomic analysis of malignant pheochromocytoma
Part of Experimental and Molecular Medicine, p. 484-502, 2010
Part of Endocrine-Related Cancer, p. 561-579, 2010
Part of Endocrine-Related Cancer, p. 561-579, 2010
Part of American Journal of Medical Genetics. Part A, p. 2595-2598, 2010
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array
Part of Neuro-Oncology, p. 803-818, 2009
Part of Genes, Chromosomes and Cancer, p. 897-907, 2009
Part of Leukemia and Lymphoma, p. 1528-34, 2009
Tissue-specific variation in DNA methylation levels along human chromosome 1
Part of Epigenetics & Chromatin, p. 7, 2009
Part of Journal of Autoimmunity, p. 273-282, 2008
Distal 22q11.2 microduplication encompassing the BCR gene
Part of American journal of medical genetics. Part A, p. 3075-3081, 2008
Part of American Journal of Human Genetics, p. 763-71, 2008
Part of Human Mutation, p. 398-408, 2008
Somatic mosaicism for copy number variation in differentiated human tissues
Part of Human Mutation, p. 1118-24, 2008
Part of American Journal of Medical Genetics Part A, p. 3302-3308, 2007
Part of American journal of medical genetics. Part A, p. 2178-2184, 2007
Part of BMC Genomics, p. 16, 2007
Detection of copy number changes at the NF1 locus with improved high-resolution array CGH
Part of Clinical Genetics, p. 238-244, 2007
Part of American Journal of Medical Genetics, Part A, p. 1760-1766, 2007
Part of Cytogenetic and Genome Research, p. 1-7, 2007
Part of Genomics, p. 152-162, 2006
Array-CGH and multipoint FISH to decode complex chromosomal rearrangements
Part of BMC Genomics, p. 330, 2006
Part of International Journal of Oncology, p. 935-945, 2006
Part of Journal of Medical Genetics, p. 28-38, 2006
Part of Cancer Research, p. 2653-2661, 2005
Part of Genes, Chromosomes and Cancer, p. 228-237, 2005
Part of Human Mutation, p. 540-9, 2005
Part of Human Molecular Genetics, p. 3221-3229, 2002