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Page 1
Characterization of discordance between mismatch repair deficiency and microsatellite instability testing may prevent inappropriate treatment with immunotherapy.
Geurts BS, Zeverijn LJ, van Berge Henegouwen JM, van der Wijngaart H, Hoes LR, de Wit GF, Spiekman IA, Battaglia TW, van Beek DM, Roepman P, Jansen AM, de Leng WW, Broeks A, Labots M, van Herpen CM, Gelderblom H, Verheul HM, Snaebjornsson P, Voest EE. Geurts BS, et al. Among authors: van beek dm. J Pathol. 2024 Jul;263(3):288-299. doi: 10.1002/path.6279. Epub 2024 May 15. J Pathol. 2024. PMID: 38747304
Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice.
Samsom KG, Bosch LJW, Schipper LJ, Schout D, Roepman P, Boelens MC, Lalezari F, Klompenhouwer EG, de Langen AJ, Buffart TE, van Linder BMH, van Deventer K, van den Burg K, Unmehopa U, Rosenberg EH, Koster R, Hogervorst FBL, van den Berg JG, Riethorst I, Schoenmaker L, van Beek D, de Bruijn E, van der Hoeven JJM, van Snellenberg H, van der Kolk LE, Cuppen E, Voest EE, Meijer GA, Monkhorst K. Samsom KG, et al. Nat Protoc. 2024 Mar;19(3):700-726. doi: 10.1038/s41596-023-00933-5. Epub 2023 Dec 13. Nat Protoc. 2024. PMID: 38092944 Review.
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.
Koster R, Schipper LJ, Giesbertz NAA, van Beek D, Mendeville M, Samsom KG, Rosenberg EH, Hogervorst FBL, Roepman P, Boelens MC, Bosch LJW, van den Berg JG, Meijer GA, Voest EE, Cuppen E, Ruijs MWG, van Wezel T, van der Kolk L, Monkhorst K. Koster R, et al. Genet Med. 2024 Feb;26(2):101032. doi: 10.1016/j.gim.2023.101032. Epub 2023 Nov 22. Genet Med. 2024. PMID: 38006283
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.
Massink MP, Kooi IE, van Mil SE, Jordanova ES, Ameziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CH, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AM, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H. Massink MP, et al. Among authors: van beek dm. Mol Oncol. 2015 Apr;9(4):877-88. doi: 10.1016/j.molonc.2014.12.012. Epub 2015 Jan 13. Mol Oncol. 2015. PMID: 25616998 Free PMC article.
Key Parameters of Tumor Epitope Immunogenicity Revealed Through a Consortium Approach Improve Neoantigen Prediction.
Wells DK, van Buuren MM, Dang KK, Hubbard-Lucey VM, Sheehan KCF, Campbell KM, Lamb A, Ward JP, Sidney J, Blazquez AB, Rech AJ, Zaretsky JM, Comin-Anduix B, Ng AHC, Chour W, Yu TV, Rizvi H, Chen JM, Manning P, Steiner GM, Doan XC; Tumor Neoantigen Selection Alliance; Merghoub T, Guinney J, Kolom A, Selinsky C, Ribas A, Hellmann MD, Hacohen N, Sette A, Heath JR, Bhardwaj N, Ramsdell F, Schreiber RD, Schumacher TN, Kvistborg P, Defranoux NA. Wells DK, et al. Cell. 2020 Oct 29;183(3):818-834.e13. doi: 10.1016/j.cell.2020.09.015. Epub 2020 Oct 9. Cell. 2020. PMID: 33038342 Free PMC article.
11 results