Division of Clinical Genetics

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  1. Article
  2. 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

    Minjun Yang, Safavi, S., Eleanor L Woodward, Duployez, N., Olsson-arvidsson, L., Jonas Ungerbäck, Mikael Sigvardsson, Zaliova, M., Zuna, J., Thoas Fioretos, Bertil Johansson, Karolin H Nord & Kajsa Paulsson, 2020 May 8, In : Blood.

    Research output: Contribution to journalArticle

  3. Extensive clonal branching shapes the evolutionary history of high-risk pediatric cancers

    Andersson, N., Bakker, B., Karlsson, J., Anders Valind, Linda Holmquist Mengelbier, Spierings, D. C. J., Foijer, F. & David Gisselsson, 2020 Apr, In : Cancer Research. 80, 7, p. 1512-1523 12 p.

    Research output: Contribution to journalArticle

  4. Global RNA expression and DNA methylation patterns in primary anaplastic thyroid cancer

    Naveen Ravi, Minjun Yang, Mylona, N., Johan Wennerberg & Kajsa Paulsson, 2020 Mar 13, In : Cancers. 12, 3, 680.

    Research output: Contribution to journalArticle

  5. The spectrum of fancm protein truncating variants in European breast cancer cases

    ENIGMA Consortium , GENESIS Study Collaborators, SWE-BRCA Group, Figlioli, G., Hans Ehrencrona & Peterlongo, P., 2020 Feb, In : Cancers. 12, 2, 292.

    Research output: Contribution to journalArticle

  6. Deep sequencing of myxoinflammatory fibroblastic sarcoma

    Elsa Arbajian, Jakob Hofvander, Magnusson, L. & Fredrik Mertens, 2020 Jan 3, In : Genes, Chromosomes and Cancer.

    Research output: Contribution to journalArticle

  7. Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Chen, Y. H., Grigelioniene, G., Newton, P. T., Gullander, J., Elfving, M., Hammarsjö, A., Batkovskyte, D., Alsaif, H. S., Kurdi, W. I. Y., Abdulwahab, F., Shanmugasundaram, V., Devey, L., Bacrot, S., Brodszki, J., Huber, C., Hamel, B., Gisselsson, D., Papadogiannakis, N., Jedrycha, K., Gürtl-Lackner, B. & 7 others, Chagin, A. S., Nishimura, G., Aschenbrenner, D., Alkuraya, F. S., Laurence, A., Cormier-Daire, V. & Uhlig, H. H., 2020, In : The Journal of experimental medicine. 217, 3, e20191306.

    Research output: Contribution to journalArticle

  8. PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells

    Jakob Hofvander, Jo, V. Y., Fletcher, C. D. M., Puls, F., Flucke, U., Nilsson, J., Magnusson, L. & Fredrik Mertens, 2020, In : Modern Pathology.

    Research output: Contribution to journalArticle

  9. NTRK fusions in osteosarcoma are rare and non-functional events

    Ameline, B., Karim H. Saba, Kovac, M., Magnusson, L., Witt, O., Bielack, S., Nathrath, M., Karolin H. Nord & Baumhoer, D., 2020, In : Journal of Pathology: Clinical Research.

    Research output: Contribution to journalArticle

  10. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Åke Borg, Hans Ehrencrona, Rebbeck, T. R., EMBRACE Collaborators & GEMO Study Collaborators, 2020, In : Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journalArticle

  11. Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

    Andreea Ilinca, Martinez-Majander, N., Sofie Samuelsson, Paul Piccinelli, Truvé, K., Cole, J., Kittner, S., Soller, M., Ulf Kristoffersson, Tatlisumak, T., Andreas Puschmann, Putaala, J. & Arne Lindgren, 2020, In : Stroke. 51, 4, p. 1056-1063 8 p.

    Research output: Contribution to journalArticle

  12. ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide

    Malmström, A., Łysiak, M., Åkesson, L., Jakobsen, I., Mudaisi, M., Milos, P., Hallbeck, M., Fomichov, V., Broholm, H., Grunnet, K., Poulsen, H. S., Bratthäll, C., Strandeus, M., Papagiannopoulou, A., Stenmark-Askmalm, M., Green, H. & Söderkvist, P., 2019 Oct 17, In : Pharmacogenomics Journal.

    Research output: Contribution to journalArticle

  13. CCL2 secreted from cancer-associated mesothelial cells promotes peritoneal metastasis of ovarian cancer cells through the P38-MAPK pathway

    Hiroaki Yasui, Kajiyama, H., Tamauchi, S., Suzuki, S., Peng, Y., Yoshikawa, N., Sugiyama, M., Nakamura, K. & Kikkawa, F., 2019 Sep 21, In : Clinical and Experimental Metastasis.

    Research output: Contribution to journalArticle

  14. Most gene fusions in cancer are stochastic events

    Bertil Johansson, Fredrik Mertens, Schyman, T., Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 Sep, In : Genes Chromosomes and Cancer. 58, 9, p. 607-611 5 p.

    Research output: Contribution to journalArticle

  15. PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

    Okuyama, K., Tobias Strid, Kuruvilla, J., Somasundaram, R., Cristobal, S., Emma Smith, Prasad, M., Thoas Fioretos, Henrik Lilljebjörn, Shamit Soneji, Stefan Lang, Jonas Ungerbäck & Mikael Sigvardsson, 2019 Aug 1, In : PLoS Genetics. 15, 8, e1008280.

    Research output: Contribution to journalArticle

  16. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

    Monika Meinert, Elisabet Englund, Hedberg-Oldfors, C., Oldfors, A., Kornhall, B., Lundin, C. & Wittström, E., 2019 Jul 2, In : Ophthalmic Genetics. 40, 3, p. 227–236 11 p.

    Research output: Contribution to journalArticle

  17. Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour

    Piarulli, G., Puls, F., Wängberg, B., Fagman, H., Hansson, M., Nilsson, J., Elsa Arbajian & Fredrik Mertens, 2019 Jun, In : Histopathology. 74, 7, p. 1098-1102

    Research output: Contribution to journalArticle

  18. Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia

    Minjun Yang, Vesterlund, M., Siavelis, I., Moura-Castro, L. H., Anders Castor, Thoas Fioretos, Jafari, R., Henrik Lilljebjörn, Odom, D. T., Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Harewood, L., Lehtiö, J. & Kajsa Paulsson, 2019 Apr 3, In : Nature Communications. 10, 1, 1519.

    Research output: Contribution to journalArticle

  19. Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

    Kajsa Paulsson & Ponte di Legno Childhood ALL Working Group, 2019 Apr 1, In : Journal of Clinical Oncology. 37, 10, p. 770-779 10 p.

    Research output: Contribution to journalArticle

  20. A novel human in vitro papillomavirus type 16 positive tonsil cancer cell line with high sensitivity to radiation and cisplatin

    Ola Forslund, Sugiyama, N., Chengjun Wu, Naveen Ravi, Jin, Y., Swoboda, S., Andersson, F., Bzhalava, D., Hultin, E., Kajsa Paulsson, Dillner, J., Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 Mar 25, In : BMC Cancer. 19, 1, 265.

    Research output: Contribution to journalArticle

  21. Identification of targetable lesions in anaplastic thyroid cancer by genome profiling

    Naveen Ravi, Minjun Yang, Sigurdur Gretarsson, Jansson, C., Mylona, N., Sydow, S. R., Eleanor L. Woodward, Lars Ekblad, Johan Wennerberg & Kajsa Paulsson, 2019 Mar 22, In : Cancers. 11, 3, 402.

    Research output: Contribution to journalArticle

  22. Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Schmidt, M. K., Dolbeault, S., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2019 Jan, In : Journal of Community Genetics. 10, 1, p. 61-71

    Research output: Contribution to journalArticle

  23. Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism

    Studd, J. B., Minjun Yang, Li, Z., Vijayakrishnan, J., Lu, Y., Yeoh, A. E. J., Kajsa Paulsson & Houlston, R. S., 2019 Jan, In : Leukemia. 33, 1, p. 1-14

    Research output: Contribution to journalArticle

  24. The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis

    Linda Holmquist Mengelbier, Lindell-Munther, S., Hiroaki Yasui, Jansson, C., Esfandyari, J., Jenny Karlsson, Lau, K., Hui, C. C., Daniel Bexell, Hopyan, S. & David Gisselsson, 2019 Jan, In : Journal of Pathology. 247, 1

    Research output: Contribution to journalArticle

  25. Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases

    Al-Ibraheemi, A., Folpe, A. L., Perez-Atayde, A. R., Perry, K., Jakob Hofvander, Elsa Arbajian, Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, In : Modern Pathology. 32, 3, p. 423-434

    Research output: Contribution to journalArticle

  26. Cancer chromosome breakpoints cluster in gene-rich genomic regions

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Schyman, T. & Nils Mandahl, 2019, In : Genes Chromosomes and Cancer. 58, 3, p. 149-154

    Research output: Contribution to journalArticle

  27. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Olkinuora, A., Nieminen, T. T., Mårtensson, E., Rohlin, A., Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M., Peltomäki, P. & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, In : Genetics in Medicine. 21, 8, p. 1868-1873

    Research output: Contribution to journalArticle

  28. PRDM10 -rearranged Soft Tissue Tumor: A Clinicopathologic Study of 9 Cases

    Puls, F., Pillay, N., Fagman, H., Palin-Masreliez, A., Amary, F., Hansson, M., Kindblom, L. G., McCulloch, T. A., Meligonis, G., Muc, R., Rissler, P., Sumathi, V. P., Tirabosco, R., Jakob Hofvander, Magnusson, L., Nilsson, J., Flanagan, A. M. & Fredrik Mertens, 2019, In : American Journal of Surgical Pathology. 43, 4, p. 504-513

    Research output: Contribution to journalArticle

  29. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 31 others, Bonache, S., Bonanni, B., Åke Borg, Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Hans Ehrencrona, Anders Kvist, Therese Törngren & KConFab Investigators, 2019, In : Human Mutation. p. 1557-1578

    Research output: Contribution to journalArticle

  30. Idiopathic ventricular fibrillation – Long term prognosis in relation to clinical findings and ECG patterns in a Swedish cohort

    U. Chaudhry, P. G. Platonov, Rubulis, A., Bergfeldt, L., Jensen, S. M., Lundin, C. & R. Borgquist, 2019, In : Journal of Electrocardiology. 56, p. 46-51 6 p.

    Research output: Contribution to journalArticle

  31. Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile

    Jakob Hofvander, Puls, F., Pillay, N., Steele, C. D., Flanagan, A. M., Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, In : Journal of Pathology. 249, 4, p. 425-434

    Research output: Contribution to journalArticle

  32. Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

    Staaf, J., Glodzik, D., Bosch, A., Vallon-Christersson, J., Reuterswärd, C., Häkkinen, J., Degasperi, A., Amarante, T. D., Saal, L. H., Hegardt, C., Stobart, H., Ehinger, A., Larsson, C., Rydén, L., Loman, N., Malmberg, M., Kvist, A., Ehrencrona, H., Davies, H. R., Borg, Å. & 1 others, Nik-Zainal, S., 2019, In : Nature Medicine. 25, p. 1526–1533

    Research output: Contribution to journalArticle

  33. Immune effector monocyte–neutrophil cooperation induced by the primary tumor prevents metastatic progression of breast cancer

    Catharina Hagerling, Gonzalez, H., Salari, K., Wang, C. Y., Lin, C., Robles, I., van Gogh, M., Dejmek, A., Karin Jirström & Werb, Z., 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 43, p. 21704-21714 11 p.

    Research output: Contribution to journalArticle

  34. De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia

    Hyrenius-Wittsten, A., Pilheden, M., Sturesson, H., Hansson, J., Walsh, M. P., Song, G., Kazi, J. U., Liu, J., Ramakrishan, R., Garcia-Ruiz, C., Nance, S., Gupta, P., Zhang, J., Rönnstrand, L., Hultquist, A., Downing, J. R., Lindkvist-Petersson, K., Paulsson, K., Järås, M., Gruber, T. A. & 2 others, Ma, J. & Anna K. Hagström-Andersson, 2018 Dec 1, In : Nature Communications. 9, 1, 1770.

    Research output: Contribution to journalArticle

  35. Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years

    Jakob Hofvander, Viklund, B., Isaksson, A., Brosjö, O., Fredrik Vult von Steyern, Rissler, P., Nils Mandahl & Fredrik Mertens, 2018 Dec 1, In : Nature Communications. 9, 1, 3662.

    Research output: Contribution to journalArticle

  36. Montelukast, a CysLT1 receptor antagonist, reduces colon cancer stemness and tumor burden in a mouse xenograft model of human colon cancer

    Bellamkonda, K., Shakti Ranjan Satapathy, Douglas, D., Chandrashekar, N., Selvanesan, B. C., Liu, M., Savari, S., Jonsson, G. & Anita Sjölander, 2018 Nov 28, In : Cancer Letters. 437, p. 13-24 12 p.

    Research output: Contribution to journalArticle

  37. Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers

    Anders Valind, Wessman, S., Pal, N., Jenny Karlsson, Tord Jonson, Sandstedt, B. & David Gisselsson, 2018 Nov 1, In : Pediatric Blood & Cancer. 65, 11, e27301.

    Research output: Contribution to journalArticle

  38. Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53

    Høland, M., Kolberg, M., Danielsen, S. A., Bjerkehagen, B., Eilertsen, I. A., Hektoen, M., Nils Mandahl, van Den Berg, E., Smeland, S., Fredrik Mertens, Sundby Hall, K., Picci, P., Sveen, A. & Lothe, R. A., 2018 Nov, In : Modern Pathology. 31, 11, p. 1694-1707

    Research output: Contribution to journalArticle

  39. Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury

    Kapur, R., Kim, M., Johan Rebetz, Hallström, B., Björkman, J. T., Takabe-French, A., Kim, N., Liu, J., Shanmugabhavananthan, S., Milosevic, S., McVey, M. J., Speck, E. R. & John W Semple, 2018 Jul 10, In : Blood Advances. 2, 13, p. 1651-1663

    Research output: Contribution to journalArticle

  40. Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer

    Jenny Karlsson, Anders Valind, Linda Holmquist Mengelbier, Bredin, S., Louise Cornmark, Jansson, C., Wali, A., Johan Staaf, Viklund, B., Ingrid Øra, Anna Börjesson, Backman, T., Braekeveldt, N., Sandstedt, B., Pal, N., Isaksson, A., Lackner, B. G., Tord Jonson, Daniel Bexell & David Gisselsson, 2018 Jul, In : Nature Genetics. 50, 7, p. 944-950

    Research output: Contribution to journalArticle

  41. Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI): a prespecified interim analysis of a prospective, multicentre, non-randomised, trial

    Saussele, S., Richter, J., Guilhot, J., Gruber, F. X., Hjorth-Hansen, H., Almeida, A., Janssen, J. J. W. M., Mayer, J., Koskenvesa, P., Panayiotidis, P., Olsson-Strömberg, U., Martinez-Lopez, J., Rousselot, P., Vestergaard, H., Ehrencrona, H., Kairisto, V., Machová Poláková, K., Müller, M. C., Mustjoki, S., Berger, M. G. & 6 others, Fabarius, A., Hofmann, W. K., Hochhaus, A., Pfirrmann, M., Mahon, F. X. & EURO-SKI investigators, 2018 Jun, In : The Lancet Oncology. 19, 6, p. 747-757

    Research output: Contribution to journalArticle

  42. Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

    Marote, A., Yuriy Pomeshchik, Collin, A., Goldwurm, S., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Apr 1, In : Stem Cell Research. 28, p. 44-47 4 p.

    Research output: Contribution to journalArticle

  43. Intact glucose uptake despite deteriorating signaling in adipocytes with high-fat feeding

    Hansson, B., Sebastian Wasserstrom, Björn Morén, Periwal, V., Petter Vikman, Cushman, S. W., Olga Göransson, Petter Storm & Karin G. Stenkula, 2018 Apr 1, In : Journal of Molecular Endocrinology. 60, 3, p. 199-211 13 p.

    Research output: Contribution to journalArticle

  44. Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling

    Roswall, P., Bocci, M., Bartoschek, M., Li, H., Kristiansen, G., Jansson, S., Lehn, S., Sjölund, J., Reid, S., Larsson, C., Eriksson, P., Anderberg, C., Cortez, E., Saal, L. H., Orsmark-Pietras, C., Cordero, E., Haller, B. K., Häkkinen, J., Burvenich, I. J. G., Lim, E. & 7 others, Orimo, A., Mattias Höglund, Lisa Rydén, Moch, H., Scott, A. M., Eriksson, U. & Kristian Pietras, 2018 Mar 12, In : Nature Medicine. 24, p. 463–473

    Research output: Contribution to journalArticle

  45. Generation of an integration-free induced pluripotent stem cell line (CSC-43J) from a patient with sporadic Parkinson's disease

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 82-85 4 p.

    Research output: Contribution to journalArticle

  46. Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

    Ekaterina Savchenko, Marote, A., Kaspar Russ, Collin, A., Goldwurm, S., Laurent Roybon & Yuriy Pomeshchik, 2018 Mar 1, In : Stem Cell Research. 27, p. 78-81 4 p.

    Research output: Contribution to journalArticle

  47. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 90-94 5 p.

    Research output: Contribution to journalArticle

  48. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 Jan 1, In : Genetics in Medicine. 20, 1, p. 109-118 10 p.

    Research output: Contribution to journalArticle

  49. Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Dolbeault, S., Robieux, L., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2018, In : Familial Cancer. 17, 1, p. 31-41

    Research output: Contribution to journalArticle

  50. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collée, J. M., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalArticle

  51. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 others, Åke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, In : Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  52. Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia

    Rebeqa Gunnarsson, Dilorenzo, S., Kristina B. Lundin-Ström, Linda Olsson, Biloglav, A., Henrik Lilljebjörn, Rissler, M., Wahlberg, P., Lundmark, A., Anders Castor, Behrendtz, M., Thoas Fioretos, Kajsa Paulsson, Isaksson, A. & Bertil Johansson, 2018, In : Leukemia. 32, 10, p. 2117-2125

    Research output: Contribution to journalArticle

  53. Patient-derived xenograft models reveal intratumor heterogeneity and temporal stability in neuroblastoma

    Braekeveldt, N., Von Stedingk, K., Fransson, S., Martinez-Monleon, A., Lindgren, D., Axelson, H., Levander, F., Willforss, J., Hansson, K., Øra, I., Backman, T., Börjesson, A., Beckman, S., Esfandyari, J., Berbegall, A. P., Noguera, R., Karlsson, J., Koster, J., Martinsson, T., Gisselsson, D. & 2 others, Sven Påhlman & Daniel Bexell, 2018, In : Cancer Research. 78, 20, p. 5958-5969 12 p.

    Research output: Contribution to journalArticle

  54. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services

    Karimi, M., Von Salomé, J., Aravidis, C., Silander, G., Askmalm, M. S., Henriksson, I., Samuel Gebre-Medhin, Frödin, J. E., Björck, E., Lagerstedt-Robinson, K., Lindblom, A. & Tham, E., 2018, In : Hereditary Cancer in Clinical Practice. 16, 1, 16.

    Research output: Contribution to journalArticle

  55. Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases

    Li, J. F., Dai, Y. T., Lilljebjörn, H., Shen, S. H., Cui, B. W., Bai, L., Liu, Y. F., Qian, M. X., Kubota, Y., Kiyoi, H., Matsumura, I., Miyazaki, Y., Olsson, L., Tan, A. M., Ariffin, H., Chen, J., Takita, J., Yasuda, T., Mano, H., Johansson, B. & 8 others, Yang, J. J., Yeoh, A. E. J., Hayakawa, F., Chen, Z., Pui, C. H., Thoas Fioretos, Chen, S. J. & Huang, J. Y., 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 50, p. E11711-E11720

    Research output: Contribution to journalArticle

  56. Neuroblastoma patient-derived xenograft cells cultured in stem-cell promoting medium retain tumorigenic and metastatic capacities but differentiate in serum

    Persson, C. U., Kristoffer Von Stedingk, Daniel Bexell, Merselius, M., Braekeveldt, N., David Gisselsson, Arsenian-Henriksson, M., Sven Påhlman & Wigerup, C., 2017 Dec 1, In : Scientific Reports. 7, 1, 10274.

    Research output: Contribution to journalArticle

  57. In-depth genetic analysis of sclerosing epithelioid fibrosarcoma reveals recurrent genomic alterations and potential treatment targets

    Elsa Arbajian, Puls, F., Antonescu, C. R., Amary, F. M., Sciot, R., Debiec-Rychter, M., Sumathi, V., Marcus Järås, Magnusson, L., Nilsson, J., Jakob Hofvander & Fredrik Mertens, 2017 Dec, In : Clinical Cancer Research. 23, 23, p. 7426-7434

    Research output: Contribution to journalArticle

  58. Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort

    Bengtsson, D., Joost, P., Aravidis, C., Askmalm Stenmark, M., Backman, A. S., Melin, B., von Salomé, J., Zagoras, T., Samuel Gebre-Medhin & Pia Burman, 2017 Nov 1, In : The Journal of clinical endocrinology and metabolism. 102, 11, p. 3928-3932 5 p.

    Research output: Contribution to journalArticle

  59. Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells

    Eriksson, M., Pablo Peña-Martínez, Ramprasad Ramakrishnan, Chapellier, M., Högberg, C., Glowacki, G., Christina Orsmark-Pietras, Velasco-Hernández, T., Lazarević, V. L., Gunnar Juliusson, Cammenga, J., Mulloy, J. C., Johan Richter, Thoas Fioretos, Ebert, B. L. & Marcus Järås, 2017 Oct 24, In : Blood Advances. 1, 23, p. 2046-2057 12 p.

    Research output: Contribution to journalArticle

  60. Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases

    Bekers, E. M., Groenen, P. J. T. A., Verdijk, M. A. J., Raaijmakers-van Geloof, W. L., Roepman, P., Vink, R., Gilhuijs, N. D. B., van Gorp, J. M., Bovée, J. V. M. G., Creytens, D. H., Flanagan, A. M., Suurmeijer, A. J. H., Mentzel, T., Elsa Arbajian & Flucke, U., 2017 Oct 1, In : Genes Chromosomes and Cancer. 56, 10, p. 750-757 8 p.

    Research output: Contribution to journalArticle

  61. Transgenic expression of human cytokines in immunodeficient mice does not facilitate myeloid expansion of BCR-ABL1 transduced human cord blood cells

    Askmyr, M., Sofia Von Palffy, Hansen, N., Niklas Landberg, Högberg, C., Rissler, M., Helena Ågerstam & Thoas Fioretos, 2017 Oct 1, In : PLoS ONE. 12, 10, e0186035.

    Research output: Contribution to journalArticle

  62. Genetic anticipation in Swedish Lynch syndrome families

    von Salomé, J., Boonstra, P. S., Karimi, M., Silander, G., Stenmark-Askmalm, M., Samuel Gebre-Medhin, Aravidis, C., Mef Nilbert, Lindblom, A. & Lagerstedt-Robinson, K., 2017 Oct 1, In : PLoS Genetics. 13, 10, e1007012.

    Research output: Contribution to journalArticle

  63. Loss of the tumor suppressor gene AIP mediates the browning of human brown fat tumors

    Magnusson, L., Hansen, N., Karim H Saba, Nilsson, J., Thoas Fioretos, Rissler, P. & Karolin Hansén Nord, 2017 Oct, In : Journal of Pathology. 243, 2, p. 160-164

    Research output: Contribution to journalArticle

  64. Solide Kindertumoren: Ein Streifzug durch das Raritätenkabinett

    Gürtl-Lackner, B., D. Gisselsson-Nord & Vujanic, G., 2017 Jul 1, In : Pathologe. 38, 4, p. 278-285 8 p.

    Research output: Contribution to journalArticle

  65. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Lee, A., Soucy, P., Dennis, J., Domchek, S. M., Robson, M., Spurdle, A. B., Ramus, S. J., Mavaddat, N., Terry, M. B., Neuhausen, S. L., Schmutzler, R. K., Simard, J., Pharoah, P. D. P., Offit, K., Couch, F. J., Chenevix-Trench, G., Easton, D. F. & 30 others, Antoniou, A. C., Healey, S., Lush, M., Hamann, U., Southey, M., John, E. M., Chung, W. K., Daly, M. B., Buys, S. S., Goldgar, D. E., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Ejlertsen, B., Gerdes, A. M., Hansen, T. V. O., Slager, S., Hallberg, E., Benitez, J., Osorio, A., Cohen, N., Lawler, W., Weitzel, J. N., Peterlongo, P., Pensotti, V., Dolcetti, R., Barile, M., Bonanni, B., Ake Borg & Hans Ehrencrona, 2017 Jul 1, In : Journal of the National Cancer Institute. 109, 7

    Research output: Contribution to journalArticle

  66. Scattered genomic amplification in dedifferentiated liposarcoma

    Nils Mandahl, Magnusson, L., Nilsson, J., Viklund, B., Elsa Arbajian, Fredrik Vult Von Steyern, Isaksson, A. & Fredrik Mertens, 2017 Jun 24, In : Molecular Cytogenetics. 10, 1, 25.

    Research output: Contribution to journalArticle

  67. Functional screen of MSI2 interactors identifies an essential role for SYNCRIP in myeloid leukemia stem cells

    Vu, L. P., Prieto, C., Amin, E. M., Chhangawala, S., Krivtsov, A., Calvo-Vidal, M. N., Chou, T., Chow, A., Minuesa, G., Park, S. M., Barlowe, T. S., Taggart, J., Tivnan, P., Deering, R. P., Chu, L. P., Kwon, J. A., Meydan, C., Perales-Paton, J., Arshi, A., Gönen, M. & 23 others, Famulare, C., Patel, M., Paietta, E., Tallman, M. S., Lu, Y., Glass, J., Garret-Bakelman, F. E., Melnick, A., Levine, R. L., Al-Shahrour, F., Marcus Järås, Hacohen, N., Hwang, A., Garippa, R., Lengner, C. J., Armstrong, S. A., Cerchietti, L., Cowley, G. S., Root, D. E., Doench, J., Leslie, C., Ebert, B. L. & Kharas, M. G., 2017 Jun 1, In : Nature Genetics. 49, 6, p. 866-875 10 p.

    Research output: Contribution to journalArticle

  68. Evolution of antigenic diversity in the tick-transmitted bacterium Borrelia afzelii: a role for host specialization?

    L. Råberg, Hagström, Andersson, M., Bartkova, S., Scherman, K., M. Strandh & Tschirren, B., 2017 May 1, In : Journal of evolutionary biology. 30, 5, p. 1034-1041 8 p.

    Research output: Contribution to journalArticle

  69. Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia

    Ilander, M., Olsson-Strömberg, U., Schlums, H., Guilhot, J., Brück, O., Lähteenmäki, H., Kasanen, T., Koskenvesa, P., Söderlund, S., Höglund, M., Markevärn, B., Själander, A., Lotfi, K., Dreimane, A., Lübking, A., Holm, E., Björeman, M., Lehmann, S., Stenke, L., Ohm, L. & 11 others, Gedde-Dahl, T., Majeed, W., H. Ehrencrona, Koskela, S., Saussele, S., Mahon, F. X., Porkka, K., Hjorth-Hansen, H., Bryceson, Y. T., J. Richter & Mustjoki, S., 2017 May 1, In : Leukemia. 31, 5, p. 1108-1116 9 p.

    Research output: Contribution to journalArticle

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