Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
Mensenkamp, Arjen R, Vogelaar, Ingrid P, van Zelst–Stams, Wendy A.G, Goossens, Monique, Ouchene, Hicham, Hendriks–Cornelissen, Sandra J.B, Kwint, Michael P, Hoogerbrugge, Nicoline, Nagtegaal, Iris D, Ligtenberg, Marjolijn J.L
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2014)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2014)
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Pfundt, Rolph, Del Rosario, Marisol, Vissers, Lisenka E L M, Kwint, Michael P, Janssen, Irene M, de Leeuw, Nicole, Yntema, Helger G, Nelen, Marcel R, Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P A, Stevens, Servi J C, Rodenburg, Richard J T, Simons, Annet, Mensenkamp, Arjen R, Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Prof Dr, Joris A, Hehir-Kwa, Jayne Y
Published in Genetics in medicine (01.06.2017)
Published in Genetics in medicine (01.06.2017)
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Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
ten Broeke, Sanne W, Brohet, Richard M, Tops, Carli M, van der Klift, Heleen M, Velthuizen, Mary E, Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H, Lindblom, Annika, Mensenkamp, Arjen R, Moller, Pal, van Os, Theo A, Rahner, Nils, Redeker, Bert J W, Sijmons, Rolf H, Spruijt, Liesbeth, Suerink, Manon, Vos, Yvonne J, Wagner, Anja, Hes, Frederik J, Vasen, Hans F, Nielsen, Maartje, Wijnen, Juul T
Published in Journal of clinical oncology (01.02.2015)
Published in Journal of clinical oncology (01.02.2015)
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TINF2 is a haploinsufficient tumor suppressor that limits telomere length
Schmutz, Isabelle, Mensenkamp, Arjen R, Takai, Kaori K, Haadsma, Maaike, Spruijt, Liesbeth, de Voer, Richarda M, Choo, Seunga Sara, Lorbeer, Franziska K, van Grinsven, Emma J, Hockemeyer, Dirk, Jongmans, Marjolijn Cj, de Lange, Titia
Published in eLife (01.12.2020)
Published in eLife (01.12.2020)
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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, Setareh, Meeks, Huong D, Vreeswijk, Maaike PG, Janssen, Linda AM, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans MW, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen BM, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, García, Encarna Gómez
Published in Journal of medical genetics (01.01.2018)
Published in Journal of medical genetics (01.01.2018)
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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
de Voer, Richarda M, Hahn, Marc-Manuel, Mensenkamp, Arjen R, Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A, Kets, C Marleen, Verwiel, Eugene T, Nagtegaal, Iris D, Schackert, Hans K, van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L, Kuiper, Roland P
Published in Scientific reports (11.09.2015)
Published in Scientific reports (11.09.2015)
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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
de Voer, Richarda M, Hahn, Marc-Manuel, Weren, Robbert D A, Mensenkamp, Arjen R, Gilissen, Christian, van Zelst-Stams, Wendy A, Spruijt, Liesbeth, Kets, C Marleen, Zhang, Junxiao, Venselaar, Hanka, Vreede, Lilian, Schubert, Nil, Tychon, Marloes, Derks, Ronny, Schackert, Hans K, Geurts van Kessel, Ad, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L, Kuiper, Roland P
Published in PLoS genetics (22.02.2016)
Published in PLoS genetics (22.02.2016)
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje
Published in Cancers (04.08.2019)
Published in Cancers (04.08.2019)
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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J, Menko, Fred H, Mensenkamp, Arjen R, Spaander, Manon C W, Wagner, Anja, Hofstra, Robert M W, Te Riele, Hein
Published in PLoS genetics (22.05.2017)
Published in PLoS genetics (22.05.2017)
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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
Marouane, Abderrahim, Neveling, Kornelia, Deden, A Chantal, van den Heuvel, Simone, Zafeiropoulou, Dimitra, Castelein, Steven, van de Veerdonk, Frank, Koolen, David A, Simons, Annet, Rodenburg, Richard, Westra, Dineke, Mensenkamp, Arjen R, de Leeuw, Nicole, Ligtenberg, Marjolijn, Matthijsse, Rene, Pfundt, Rolph, Kamsteeg, Erik Jan, Brunner, Han G, Gilissen, Christian, Feenstra, Ilse, de Boode, Willem P, Yntema, Helger G, van Zelst-Stams, Wendy A G, Nelen, Marcel, Vissers, Lisenka E L M
Published in Frontiers in genetics (08.01.2024)
Published in Frontiers in genetics (08.01.2024)
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The Endoplasmic Reticulum Coat Protein II Transport Machinery Coordinates Cellular Lipid Secretion and Cholesterol Biosynthesis
Fryer, Lee G.D., Jones, Bethan, Duncan, Emma J., Hutchison, Claire E., Ozkan, Tozen, Williams, Paul A., Alder, Olivia, Nieuwdorp, Max, Townley, Anna K., Mensenkamp, Arjen R., Stephens, David J., Dallinga-Thie, Geesje M., Shoulders, Carol C.
Published in The Journal of biological chemistry (14.02.2014)
Published in The Journal of biological chemistry (14.02.2014)
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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
Rebbeck, Timothy R, Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M, Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Nathanson, Katherine L, Kushnir, Anya, Zidan, Jamal, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I, Odunsi, Kunle, Domchek, Susan M, Karlan, Beth Y, Walsh, Christine, Chung, Wendy K, Janavicius, Ramunas, Steele, Linda, Ejlertsen, Bent, Hansen, Thomas v. O, Benitez, Javier, Godino, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Bobolis, Kristie A, Peissel, Bernard, Genuardi, Maurizio, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Fostira, Florentia, Frost, Debra, Platte, Radka, Davidson, Rosemarie, Eccles, Diana, Hodgson, Shirley, Porteous, Mary E, Izatt, Louise, Donaldson, Alan, Ellis, Steve, Schmutzler, Rita Katharina, Becker, Alexandra, Engel, Christoph, Mundhenke, Christoph, Niederacher, Dieter, Fleisch, Markus, Sutter, Christian, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Gehrig, Andrea, Weber, Bernhard H, Mazoyer, Sylvie, Gauthier-Villars, Marion, Peyrat, Jean-Philippe, Muller, Danièle, De Paepe, Anne, De Leeneer, Kim, Piedmonte, Marion, Rodriguez, Gustavo, Blank, Stephanie V, Azodi, Masoud, Phillips, Kelly-Anne, de la Hoya, Miguel, Romero, Atocha, Aittomäki, Kristiina, Oosterwijk, Jan C, Wijnen, Juul T, Ausems, Margreet G. E. M, Aalfs, Cora M, Kwong, Ava, Darder, Esther, Blanco, Ignacio, Durda, Katarzyna, Sukiennicki, Grzegorz, Byrski, Tomasz, Toloczko-Grabarek, Aleksandra, Arason, Adalgeir, Laframboise, Rachel, Agata, Simona, Lee, Min Hyuk, Park, Sue K, Lindor, Noralane M, Tischkowitz, Marc, Vijai, Joseph, Offit, Kenneth, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F, Pfeiler, Georg, Senter, Leigha, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Teo, Soo-Hwang, Hulick, Peter J
Published in JAMA : the journal of the American Medical Association (07.04.2015)
Published in JAMA : the journal of the American Medical Association (07.04.2015)
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesserwan, Chimene, Landrith, Tyler, Li, Shuwei, Mensenkamp, Arjen R., Oliveira, Carla, Pardo, Carolina, Pesaran, Tina, Richardson, Matthew, Slavin, Thomas P., Spurdle, Amanda B., Trapp, Mackenzie, Witkowski, Leora, Yi, Charles S., Zhang, Liying, Plon, Sharon E., Schrader, Kasmintan A., Karam, Rachid
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
van Spaendonck-Zwarts, Karin Y., Badeloe, Sadhanna, Oosting, Sjoukje F., Hovenga, Sjoerd, Semmelink, Harry J. F., van Moorselaar, R. Jeroen A., van Waesberghe, Jan Hein, Mensenkamp, Arjen R., Menko, Fred H.
Published in Familial cancer (01.03.2012)
Published in Familial cancer (01.03.2012)
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Cancer Risks for PMS2-Associated Lynch Syndrome
Ten Broeke, Sanne W, van der Klift, Heleen M, Tops, Carli M J, Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D, de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C, Haile, Robert, Hampel, Heather L, Hopper, John L, Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G W, Jenkins, Mark A, Lindblom, Annika, Lindor, Noralane M, Mensenkamp, Arjen R, Møller, Pål, Newcomb, Polly A, van Os, Theo A M, Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J W, Olderode-Berends, Maran J W, Rosty, Christophe, Schackert, Hans K, Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J, Wagner, Anja, Winship, Ingrid, Hes, Frederik J, Vasen, Hans F A, Wijnen, Juul T, Nielsen, Maartje, Win, Aung Ko
Published in Journal of clinical oncology (10.10.2018)
Published in Journal of clinical oncology (10.10.2018)
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Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome
Te Paske, Iris B.A.W., Mensenkamp, Arjen R., Neveling, Kornelia, Baert-Desurmont, Stéphanie, Claes, Kathleen B.M., de Leeneer, Kim, Elze, Lisa, van den Heuvel, Simone, van der Post, Rachel S., van Twuijver, Yvonne, van Ham, Tjakko J., Wagner, Anja, de Jong, Mirjam M., Leter, Edward M., Nielsen, Maartje, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., De Voer, Richarda M.
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2022)
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2022)
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2
Elze, Lisa, van der Post, Rachel S, Vos, Janet R, Mensenkamp, Arjen R, Pamidimarri Naga, Samhita, Hampstead, Juliet E, Vermeulen, Emma, Oorsprong, Michiel, Hofste, Tom, Simons, Michiel, Nagtegaal, Iris D, Hoogerbrugge, Nicoline, de Voer, Richarda M, Ligtenberg, Marjolijn J L
Published in JNCI : Journal of the National Cancer Institute (03.07.2024)
Published in JNCI : Journal of the National Cancer Institute (03.07.2024)
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