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
Group members
Publications
Loss of chromosome Y in regulatory T cells
Part of BMC Genomics, 2024
Part of Scientific Reports, 2024
Part of Biomarker Insights, 2024
Part of Cancers, 2024
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
Part of Stroke, p. 2434-2437, 2023
Plasma protein changes reflect colorectal cancer development and associated inflammation
Part of Frontiers in Oncology, 2023
Size matters: the impact of nucleus size on results from spatial transcriptomics
Part of Journal of Translational Medicine, 2023
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
- Download full text (pdf) of High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
Part of Leukemia, p. 889-891, 2022
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Part of Genome Medicine, 2022
Part of Scientific Reports, 2022
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021
Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Part of Scientific Reports, 2021
Part of Molecular Genetics & Genomic Medicine, 2021
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
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
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
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