Search Results - "Doorn, Remco"

Surveillance, CDKN2A and survival of familial melanoma by Doorn, Remco

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Genome‐wide characterization of 5‐hydoxymethylcytosine in melanoma reveals major differences with nevus by Salgado, Catarina, Oosting, Jan, Janssen, Bart, Kumar, Rajiv, Gruis, Nelleke, Doorn, Remco

“…Melanoma demonstrates altered patterns of DNA methylation that are associated with genetic instability and transcriptional repression of numerous genes. Active…”
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Stratum corneum cytokine levels in mycosis fungoides by Nguyen, Anh Ly, Kezic, Sanja, Vermeer, Maarten, Quint, Koen, Slieker, Roderick, Doorn, Remco, Rustemeyer, Thomas

“…Mycosis fungoides (MF) is characterised by malignant CD4+ T‐cell infiltrates in the skin. The functional characteristics of the malignant T cells and their…”
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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families by Potjer, Thomas P., Bollen, Sander, Grimbergen, Anneliese J.E.M., Doorn, Remco, Gruis, Nelleke A., Asperen, Christi J., Hes, Frederik J., Stoep, Nienke

“…Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10–40% of melanoma‐prone families. In our study we…”
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NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature by Gravesteijn, Gido, Hack, Remco J., Mulder, Aat A., Cerfontaine, Minne N., Doorn, Remco, Hegeman, Ingrid M., Jost, Carolina R., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.

“…Aims CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine‐altering NOTCH3 variants (NOTCH3cys) leading to vascular…”
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Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study by Klatte, Derk C. F., Onnekink, Anke M., Hinnen, Chris, Doorn, Remco, Potjer, Thomas P., Leerdam, Monique E., Bleiker, Eveline M. A.

“…Individuals with a germline CDKN2A pathogenic variant (PV) are at high risk of developing melanoma and pancreatic cancer and are therefore offered…”
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Analysis of CRISPR‐Cas9 screens identifies genetic dependencies in melanoma by Christodoulou, Eirini, Rashid, Mamunur, Pacini, Clare, Droop, Alastair, Robertson, Holly, Groningen, Tim van, Teunisse, Amina F. A. S., Iorio, Francesco, Jochemsen, Aart G., Adams, David J., Doorn, Remco van

“…Targeting the MAPK signaling pathway has transformed the treatment of metastatic melanoma. CRISPR‐Cas9 genetic screens provide a genome‐wide approach to…”
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Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study by Verkouteren, Babette J. A., Wakkee, Marlies, Reyners, An K. L., Nelemans, Patty, Aarts, Maureen J. B., Rácz, Emőke, Terra, Jorrit B., Devriese, Lot A., Alers, Robert-Jan, Kapiteijn, Ellen, van Doorn, Remco, Bekkenk, Marcel W., Reinders, Marie G.H.C., Mosterd, Klara

“…Background Vismodegib has been used for the treatment of locally advanced basal cell carcinoma (laBCC) and metastatic BCC (mBCC) since 2011. Most efficacy and…”
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Proinvasion Metastasis Drivers in Early-Stage Melanoma Are Oncogenes by Scott, Kenneth L., Nogueira, Cristina, Heffernan, Timothy P., van Doorn, Remco, Dhakal, Sabin, Hanna, Jason A., Min, Chengyin, Jaskelioff, Mariela, Xiao, Yonghong, Wu, Chang-Jiun, Cameron, Lisa A., Perry, Samuel R., Zeid, Rhamy, Feinberg, Tamar, Kim, Minjung, Vande Woude, George, Granter, Scott R., Bosenberg, Marcus, Chu, Gerald C., DePinho, Ronald A., Rimm, David L., Chin, Lynda

“…Clinical and genomic evidence suggests that the metastatic potential of a primary tumor may be dictated by prometastatic events that have additional oncogenic…”
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A Meta-Analysis of Gene Expression Data Identifies a Molecular Signature Characteristic for Tumor-Stage Mycosis Fungoides by van Kester, Marloes S., Borg, Martin K., Zoutman, Willem H., Out-Luiting, Jacoba J., Jansen, Patty M., Dreef, Enno J., Vermeer, Maarten H., van Doorn, Remco, Willemze, Rein, Tensen, Cornelis P.

“…Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma (CTCL). To identify a molecular signature characteristic of MF tumor stage,…”
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The effect of TGFβRI inhibition on extracellular matrix structure and stiffness in hypertrophic scar-specific fibroblast-derived matrix models by Raktoe, Rajiv S., van Haasterecht, Ludo, Antonovaite, Nelda, Bartolini, Luca, van Doorn, Remco, van Zuijlen, Paul P.M., Groot, Marie Louise, EL Ghalbzouri, Abdoelwaheb

“…•A scar-specific FDM model was used to test the in vitro efficacy of ALK5 exon skipping.•ALK5 exon 2 skipping reduced parallel orientation of collagen in the…”
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Reply to Comment on “Improving clinical diagnosis of early-stage cutaneous melanoma based on Raman spectroscopy” by Santos, Inês P., Caspers, Peter J., van Doorn, Remco, Koljenović, Senada, Puppels, Gerwin J.

“…With great interest we have read the letter by De Giorgi et al.1 in which they express their disagreement with the conclusions of our study on the potential…”
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Adverse Events in Anti-PD-1-Treated Adjuvant and First-Line Advanced Melanoma Patients by Rauwerdink, Daan Jan Willem, Not, Olivier van, de Meza, Melissa, Doorn, Remco van, Hage, Jos van der, Eertwegh, A J M van den, Haanen, John B, Aarts, Maureen J B, Berkmortel, Franchette W P J van den, Blank, Christiaan U, Boers-Sonderen, Marye J, Groot, Jan Willem B de, Hospers, Geke A P, Piersma, Djura, van Rijn, Rozemarijn S, Stevense-den Boer, A M, Veldt, Astrid A M van der, Vreugdenhil, Gerard, Wouters, Michel W J M, Suijkerbuijk, Karijn P M, Kapiteijn, Ellen

“…: The difference in incidence and severity of anti-PD-1 therapy-related adverse events (irAEs) between adjuvant and advanced treated melanoma patients remains…”
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Association of HERV-K and LINE-1 hypomethylation with reduced disease-free survival in melanoma patients by Cardelli, Maurizio, Doorn, Remco van, Larcher, Lares, Donato, Michela Di, Piacenza, Francesco, Pierpaoli, Elisa, Giacconi, Robertina, Malavolta, Marco, Rachakonda, Sivaramakrishna, Gruis, Nelleke A, Molven, Anders, Andresen, Per Arne, Pjanova, Dace, van den Oord, Joost J, Provinciali, Mauro, Nagore, Eduardo, Kumar, Rajiv

“…To evaluate CpG methylation of long interspersed nuclear elements 1 (LINE-1) and human endogenous retrovirus K (HERV-K) retroelements as potential prognostic…”
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Germline CDKN2A /P16INK4A mutations contribute to genetic determinism of sarcoma by Jouenne, Fanélie, Chauvot de Beauchene, Isaure, Bollaert, Emeline, Avril, Marie-Françoise, Caron, Olivier, Ingster, Olivier, Lecesne, Axel, Benusiglio, Patrick, Terrier, Philippe, Caumette, Vincent, Pissaloux, Daniel, de la Fouchardière, Arnaud, Cabaret, Odile, N'Diaye, Birama, Velghe, Amélie, Bougeard, Gaelle, Mann, Graham J, Koscielny, Serge, Barrett, Jennifer H, Harland, Mark, Newton-Bishop, Julia, Gruis, Nelleke, Van Doorn, Remco, Gauthier-Villars, Marion, Pierron, Gaelle, Stoppa-Lyonnet, Dominique, Coupier, Isabelle, Guimbaud, Rosine, Delnatte, Capucine, Scoazec, Jean-Yves, Eggermont, Alexander M, Feunteun, Jean, Tchertanov, Luba, Demoulin, Jean-Baptiste, Frebourg, Thierry, Bressac-de Paillerets, Brigitte

“…Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their…”
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Germline TERT promoter mutations are rare in familial melanoma by Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-Marie, Brown, Kevin M., Hayward, Nicholas K., Newton-Bishop, Julia A., Adams, David J., Bishop, D. Timothy

“…Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4 , BAP1 , and genes involved in telomere function ( ACD,…”
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Implementation of a novel low-noise InGaAs detector enabling rapid near-infrared multichannel Raman spectroscopy of pigmented biological samples by Santos, Inês P., Caspers, Peter J., Bakker Schut, Tom, van Doorn, Remco, Koljenović, Senada, Puppels, Gerwin J.

“…Pigmented tissues are inaccessible to Raman spectroscopy using visible laser light because of the high level of laser‐induced tissue fluorescence. The…”
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NEK11 as a candidate high-penetrance melanoma susceptibility gene by Christodoulou, Eirini, van Doorn, Remco, Visser, Mijke, Teunisse, Amina, Versluis, Mieke, van der Velden, Pieter, Hayward, Nicholas K, Jochemsen, Aart, Gruis, Nelleke

“…A proportion of patients diagnosed with cutaneous melanoma reports a positive family history. Inherited variants in and several other genes have been shown to…”
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Genome‐wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma by Gao, Linda, Smit, Marjon A., den Oord, Joost J., Goeman, Jelle J., Verdegaal, Els M. E., Burg, Sjoerd H., Stas, Marguerite, Beck, Samuel, Gruis, Nelleke A., Tensen, Cornelis P., Willemze, Rein, Peeper, Daniel S., Doorn, Remco

“…Summary The involvement of epigenetic alterations in the pathogenesis of melanoma is increasingly recognized. Here, we performed genome‐wide DNA methylation…”
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Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations by Yang, Xiaohong R., Rotunno, Melissa, Xiao, Yanzi, Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Bennett, Hunter, Graham, Cole, Sampson, Joshua N., Malasky, Michael, Vogt, Aurelie, Zhu, Bin, Bianchi-Scarra, Giovanna, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Hansson, Johan, Tuominen, Rainer, Burdett, Laurie, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Yeager, Meredith, Chanock, Stephen J., Landi, Maria Teresa, Höiom, Veronica, Olsson, Håkan, Gruis, Nelleke, Ghiorzo, Paola, Tucker, Margaret A., Goldstein, Alisa M.

“…The risk of pancreatic cancer (PC) is increased in melanoma-prone families but the causal relationship between germline CDKN2A mutations and PC risk is…”
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