Sybille Hofer

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Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. Compared with wild-type protein, SEMA4A(V78M) demonstrates(More)
Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-κB(More)
1 Biocenter, Division of Bioinformatics, Innsbruck Medical University, Innsbruck, Austria, 2 Department of Medicine I, Medical University of Vienna, Vienna, Austria, 3 Comprehensive Cancer Center of the Medical University of Vienna, Vienna, Austria, 4 Division of Hematology, Medical University of Graz, Graz, Austria, 5 Institute of Molecular Genetics and(More)
Genetic alterations causing constitutive activation of the nuclear factor kappa B (NF-κB) signaling pathway has been associated with the development of lymphomas. A20 (TNFAIP3) is a key regulator of NF-κB signaling. Its suppressor functions are often inactivated by deletions and/or mutations in various hematologic malignancies. Since we recently found the(More)
Acknowledgments: This work was supported by the American Society of Hematology, the American Society of Hematology Research Training Award for Fellows, a grant from the National Institutes of Health, National Cancer Institute (NCI) (P30 CA016672), the Cancer Prevention Research Institute of Texas (RP100202) (G.G.-M.), and generous philanthropic(More)
Despite achieving complete remission after intensive therapy, most patients with cytogenetically normal (CN) AML relapse due to the persistence of submicroscopic residual disease. In this pilot study, we hypothesized that detection of leukemia-specific mutations following consolidation treatment using a targeted parallel sequencing approach predicts(More)
Acute myeloid leukaemia (AML) is a disease of unknown aetiology characterized by different genetic subgroups (Papaemmanuil et al, 2016). TP53 is a tumour suppressor gene involved in many important cellular processes, including DNA repair, cell-cycle control and apoptosis, and is somatically mutated in c. 10% of AMLs associated with dismal outcome(More)
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