Doris Steinemann
A5077761723- Acute Myeloid Leukemia Research
- BRCA gene mutations in cancer
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Acute Lymphoblastic Leukemia research
- Cancer Genomics and Diagnostics
- Blood disorders and treatments
- Chronic Lymphocytic Leukemia Research
- Epigenetics and DNA Methylation
- Chronic Myeloid Leukemia Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA Interference and Gene Delivery
- Pluripotent Stem Cells Research
- Lymphoma Diagnosis and Treatment
- RNA modifications and cancer
- Virus-based gene therapy research
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Advanced biosensing and bioanalysis techniques
- Immunodeficiency and Autoimmune Disorders
- Genomics and Chromatin Dynamics
- Protein Tyrosine Phosphatases
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related gene regulation
- Neutropenia and Cancer Infections
Medizinische Hochschule Hannover
2015-2024
Cancer Research And Biostatistics
2019
Kiel University
2001-2018
University Hospital Schleswig-Holstein
2018
University of Lübeck
2018
Jazz Pharmaceuticals (Italy)
2018
International Breast Cancer Study Group
2018
University of Zurich
2018
Sigma-Tau Pharmaceuticals (United States)
2018
Baxter (United States)
2018
Wiskott-Aldrich syndrome gene therapy is feasible, but γ-retroviral vectors contribute a substantial risk of leukemogenesis.
Purpose Somatic deletions that affect the lymphoid transcription factor–coding gene IKZF1 have previously been reported as independently associated with a poor prognosis in pediatric B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). We now refined prognostic strength of by analyzing effect co-occurring deletions. Patients and Methods The analysis involved 991 patients BCP ALL treated Associazione Italiana Ematologia ed Oncologia Pediatrica–Berlin-Frankfurt-Muenster (AIEOP-BFM) 2000...
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
Uniparental parthenotes are considered an unwanted byproduct of in vitro fertilization. In utero parthenote development is severely compromised by defective organogenesis and particular cardiogenesis. Although developmentally compromised, apparently pluripotent stem cells can be derived from parthenogenetic blastocysts. Here we hypothesized that nonembryonic (PSCs) directed toward the cardiac lineage applied to tissue-engineered heart repair. We first confirmed similar fundamental properties...
Abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood spleen. Using expression quantitative trait loci (eQTL) reported these identify 26 previously unreported, likely target genes of overall risk variants, 17 for estrogen receptor (ER)-negative cancer, several with a known function. We...
Abstract Introduction The distribution of histopathological features invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that individuals with no known mutation. Histopathological thus have utility for prediction, including statistical modeling to assess pathogenicity variants uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium Investigators Modifiers /2 (CIMBA) and Breast Cancer Association (BCAC) reassess predictors...
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity data exists on the pathology cancers (BCs) in men BRCA1/2 mutations. Using largest available dataset, we determined whether MBCs arising mutation carriers display specific pathologic features and these differ from those female BCs (FBCs). We characterised 419 using logistic regression analysis, contrasted 9675 FBCs population-based 6351 Surveillance, Epidemiology,...
Abstract The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve recognition and management this group at risk individuals. Here we report cohort 86 acute leukemia (AML) myelodysplastic syndrome (MDS) families with 49 harboring germline variants 16 previously defined loci (57%). Whole exome sequencing further 37 uncharacterized (43%) allowed us rationalize 65 new candidate loci, including genes mutated rare...
Hereditary pulmonary alveolar proteinosis (hPAP) caused by granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor α-chain (CSF2RA) deficiency is a rare, life-threatening lung disease characterized accumulation of proteins and phospholipids in the spaces. The functional insufficiency macrophages, which require GM-CSF signaling for terminal differentiation effective degradation phospholipids. Therapeutic options are extremely limited, pathophysiology underlying defective protein...
A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic variant. We used large-scale genetic clinical resources from the ENIGMA, CIMBA BCAC consortia assess pathogenicity C. The combined odds for causality considering case-control, segregation breast tumor...
The discovery of direct cell reprogramming and induced pluripotent stem (iPS) technology opened up new avenues for the application non-viral, transposon-based gene delivery systems. Sleeping Beauty (SB) transposon is highly advanced versatile genetic manipulations in mammalian cells. We established iPS mouse embryonic fibroblasts human foreskin by transposition OSKM (Oct4, Sox2, Klf4 c-Myc) OSKML (OSKM + Lin28) expression cassettes mobilized SB100X hyperactive transposase. efficiency...
Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) severe intellectual disability (ID) females. Different have also been reported males. The associated phenotypes range from nonsyndromic ID to Ohtahara syndrome hypoplasia. However, phenotypic spectrum males has not systematically evaluated date.We identified a alteration 8 novel unrelated male patients by targeted Sanger sequencing, copy number...
Acute lymphoblastic leukemia (ALL) is the most prevalent type of cancer occurring in children. ALL characterized by structural and numeric genomic aberrations that strongly correlate with prognosis clinical outcome. Usually, a combination cyto- molecular genetic methods (karyotyping, array-CGH, FISH, RT-PCR, RNA-Seq) needed to identify all relevant for risk stratification. We investigated feasibility optical genome mapping (OGM), DNA-based method, detect these an all-in-one approach. As...
The molecular pathophysiology of myeloproliferative neoplasms (MPNs) remains poorly understood. Based on the observation that transcription factor NF-E2 is often overexpressed in MPN patients, independent presence other aberrations, we generated mice expressing an transgene hematopoietic cells. These exhibit many features MPNs, including thrombocytosis, leukocytosis, Epo-independent colony formation, characteristic bone marrow histology, expansion stem and progenitor compartments,...