Prof. Dr. Doris Steinemann participates in RESIST research project A2.
| My Research Interest in RESIST |
Our research focus in RESIST is the discovery of genetic and genomic variants that are associated with enhanced infection susceptibility in patients with primary immunodeficiency disease (PID) and their functional validation. This includes the identification of pathogenic SNPs as well as copy number variations (CNVs) from WES data of patients with PID. To identify structural variations (SVs) like inversions, insertions or translocations within genomic regions of known or so far unknown PID genes we will apply next generation mapping (NGM), a new method based on the de novo assembly of fluorescently labelled high molecular weight double-stranded DNA molecules (megabase size).
Our aim is to increase the diagnostic yield and to better understand the pathomechanisms and clinical phenotypes of PID based on the underlying genetic variation. The long-term aim is to translate molecular genetic findings into new therapeutic targets and personalized treatment options.
Prof. Steinemann about her scientific work
Prof. Dr. Doris Steinemann – Curriculum Vitae
Current Position
Undergraduate and Postgraduate Training
Academic and Research Posts
Other Scientific Roles
Awards and Prizes
10 Selected Publications (of > 137 original publications)
Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D. The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. Int J Cancer. 2019 144(11):2683-2694.
Ripperger T, Hofmann W, Koch JC, Shirneshan K, Haase D, Wulf G, Issing PR, Karnebogen M, Schmidt G, Auber B, Schlegelberger B, Illig T, Zirn B, Steinemann D. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies. Haematologica. 2018 103(2):e55-e58.
Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D. Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. Breast Cancer Res. 2018 7;20(1):87.
Pahl L, Beier R, von Neuhoff N, Auber B, Höfs M, Prott EC, Schlegelberger B, Reinhardt D, Steinemann D. Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome. Pediatr Blood Cancer. 2018 65(10):e27254.
Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D. A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome. Breast Cancer Res Treat. 2018 172(3):561-569.
Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D. GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families. Genes Cancer. 2017 8(1-2):472-483.
Christgen M, van Luttikhuizen JL, Raap M, Braubach P, Schmidt L, Jonigk D, Feuerhake F, Lehmann U, Schlegelberger B, Kreipe HH, Steinemann D. Precise ERBB2 copy number assessment in breast cancer by means of molecular inversion probe array analysis. Oncotarget. 2016 7(50):82733-82740.
Manukjan G, Ripperger T, Venturini L, Stadler M, Göhring G, Schambach A, Schlegelberger B, Steinemann D. GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia.Stem Cell Res. 2016 16(3):677-681.
Ripperger T, Manukjan G, Meyer J, Wolter S, Schambach A, Bohne J, Modlich U, Li Z, Skawran B, Schlegelberger B, Steinemann D. The heteromeric transcription factor GABP activates the ITGAM/CD11b promoter and induces myeloid differentiation. Biochim Biophys Acta. 2015 1849(9):1145-54
Steinemann D*, Skokowa J,* Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, Unalan M, Kandabarau S, Makaryan V, Beekman R, Behrens K, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Göhring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan CM, Touw IP, van den Heuvel-Eibrink MM, Dale DC, Welte K. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014 123(14):2229-37. *shared first authorship
