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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: jansen eam. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Grolleman JE, et al. Among authors: jansen eam. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. Cancer Cell. 2019. PMID: 30753826 Free article.
Evaluation of a Hybrid Capture-Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes.
Kroeze LI, de Voer RM, Kamping EJ, von Rhein D, Jansen EAM, Hermsen MJW, Barberis MCP, Botling J, Garrido-Martin EM, Haller F, Lacroix L, Maes B, Merkelbach-Bruse S, Pestinger V, Pfarr N, Stenzinger A, van den Heuvel MM, Grünberg K, Ligtenberg MJL. Kroeze LI, et al. Among authors: jansen eam. J Mol Diagn. 2020 Jun;22(6):757-769. doi: 10.1016/j.jmoldx.2020.02.009. Epub 2020 Mar 20. J Mol Diagn. 2020. PMID: 32205293 Free article.
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Steeghs EMP, Kroeze LI, Tops BBJ, van Kempen LC, Ter Elst A, Kastner-van Raaij AWM, Hendriks-Cornelissen SJB, Hermsen MJW, Jansen EAM, Nederlof PM, Schuuring E, Ligtenberg MJL, Eijkelenboom A. Steeghs EMP, et al. Among authors: jansen eam. BMC Cancer. 2020 Apr 7;20(1):291. doi: 10.1186/s12885-020-06785-6. BMC Cancer. 2020. PMID: 32264863 Free PMC article.
Clinical Validity of Tumor-Informed Circulating Tumor DNA Analysis in Patients Undergoing Surgery of Colorectal Metastases.
Hofste LSM, Geerlings MJ, Kamping EJ, Kouwenhoven NDH, von Rhein D, Jansen EAM, Garms LM, Nagtegaal ID, van der Post RS, de Wilt JHW, Klarenbeek BR, Ligtenberg MJL. Hofste LSM, et al. Among authors: jansen eam. Dis Colon Rectum. 2023 Jun 1;66(6):796-804. doi: 10.1097/DCR.0000000000002443. Epub 2022 Jul 12. Dis Colon Rectum. 2023. PMID: 35857852 Free PMC article.
Identification of Fusion Genes and Targets for Genetically Matched Therapies in a Large Cohort of Salivary Gland Cancer Patients.
Lassche G, van Helvert S, Eijkelenboom A, Tjan MJH, Jansen EAM, van Cleef PHJ, Verhaegh GW, Kamping EJ, Grünberg K, van Engen-van Grunsven ACH, Ligtenberg MJL, van Herpen CML. Lassche G, et al. Among authors: jansen eam. Cancers (Basel). 2022 Aug 27;14(17):4156. doi: 10.3390/cancers14174156. Cancers (Basel). 2022. PMID: 36077692 Free PMC article.
Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.
de Bitter TJJ, de Reuver PR, de Savornin Lohman EAJ, Kroeze LI, Vink-Börger ME, van Vliet S, Simmer F, von Rhein D, Jansen EAM, Verheij J, van Herpen CML, Nagtegaal ID, Ligtenberg MJL, van der Post RS. de Bitter TJJ, et al. Among authors: jansen eam. NPJ Precis Oncol. 2022 Nov 5;6(1):83. doi: 10.1038/s41698-022-00327-y. NPJ Precis Oncol. 2022. PMID: 36335173 Free PMC article.