MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients
de Laat, Joanne M, van der Luijt, Rob B, Pieterman, Carolina R C, Oostveen, Maria P, Hermus, Ad R, Dekkers, Olaf M, de Herder, Wouter W, van der Horst-Schrivers, Anouk N, Drent, Madeleine L, Bisschop, Peter H, Havekes, Bas, Vriens, Menno R, Valk, Gerlof D
Published in BMC medicine (15.11.2016)
Published in BMC medicine (15.11.2016)
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Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer
van der Tuin, Karin, Ruano, Dina, Knijnenburg, Jeroen, van der Luijt, Rob B, Morreau, Hans, Links, Thera P, Hes, Frederik J
Published in The journal of clinical endocrinology and metabolism (18.11.2024)
Published in The journal of clinical endocrinology and metabolism (18.11.2024)
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Genetic analysis of von Hippel-Lindau disease
Nordstrom-O'Brien, Morgan, van der Luijt, Rob B, van Rooijen, Ellen, van den Ouweland, Ans M, Majoor-Krakauer, Danielle F, Lolkema, Martijn P, van Brussel, Aram, Voest, Emile E, Giles, Rachel H
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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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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Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype
Pieterman, Carolina R C, van Hulsteijn, Leonie T, den Heijer, Martin, van der Luijt, Rob B, Bonenkamp, J J, Hermus, Ad R M M, Borel Rinkes, Inne H M, Vriens, Menno R, Valk, Gerlof D
Published in Annals of surgery (01.06.2012)
Published in Annals of surgery (01.06.2012)
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Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations
Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, Tuppurainen, Karoliina, Mäkinen, Markus J, Vierimaa, Outi, Paschke, Ralf, Saeger, Wolfgang, van der Luijt, Rob B, Sane, Timo, Robledo, Mercedes, De Menis, Ernesto, Weil, Robert J, Wasik, Anna, Zielinski, Grzegorz, Lucewicz, Olga, Lubinski, Jan, Launonen, Virpi, Vahteristo, Pia, Aaltonen, Lauri A
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (06.03.2007)
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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A, Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G E M, Berutti, Riccardo, Bolla, Manjeet K, Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R, Dunning, Alison M, Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R R, Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Horváth, Judit, Ikram, M Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W M, Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D P, Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M, Sutter, Christian, Thiele, Holger, van Asperen, Christi J, van der Kolk, Lizet, van der Luijt, Rob B, Volk, Alexander E, Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H F, Genome Of The Netherlands Project, Ghs Study Group, Devilee, Peter, Tavtigian, Sean, Bader, Gary D, Meindl, Alfons, Goldgar, David E, Andrulis, Irene L, Schmutzler, Rita K, Easton, Douglas F, Schmidt, Marjanka K, Hahnen, Eric, Simard, Jacques
Published in Cancers (11.07.2022)
Published in Cancers (11.07.2022)
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The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Teixeira, Natalia, van der Hout, Annemieke, Oosterwijk, Jan C, Vos, Janet R, Devilee, Peter, van Engelen, Klaartje, Meijers-Heijboer, Hanne, van der Luijt, Rob B, Kriege, Mieke, Mensenkamp, Arjen R, Rookus, Matti A, van Roozendaal, Kees E, Mourits, Marian J E, de Bock, Geertruida H
Published in European journal of human genetics : EJHG (01.06.2018)
Published in European journal of human genetics : EJHG (01.06.2018)
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HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriers
van der Groep, Petra, van Diest, Paul J, Smolders, Yvonne H C M, Ausems, Margreet G E M, van der Luijt, Rob B, Menko, Fred H, Bart, Joost, de Vries, Elisabeth G E, van der Wall, Elsken
Published in PloS one (08.02.2013)
Published in PloS one (08.02.2013)
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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences
Velthuizen, Mary E, van der Luijt, Rob B, de Vries, Beja J, Koudijs, Marco J, Bleiker, Eveline M A, Ausems, Margreet G E M
Published in Hereditary cancer in clinical practice (19.01.2021)
Published in Hereditary cancer in clinical practice (19.01.2021)
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A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting
Hout, Annemarie H. van der, Ouweland, Ans M.W. van den, Luijt, Rob B. van der, Gille, Hans J.P., Bodmer, Daniëlle, Brüggenwirth, Hennie, Mulder, Inge M., Vlies, Pieter van der, Elfferich, Peter, Huisman, Maarten T., Berge, Annelies M. ten, Kromosoeto, Joan, Jansen, Rumo P.M., Zon, Patrick H.A. van, Vriesman, Thyrsa, Arts, Neeltje, Lange, Majella Boutmy-de, Oosterwijk, Jan C., Meijers-Heijboer, Hanne, Ausems, Margreet G.E.M., Hoogerbrugge, Nicoline, Verhoef, Senno, Halley, Dicky J.J., Vos, Yvonne J., Hogervorst, Frans, Ligtenberg, Marjolijn, Hofstra, Robert M.W.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial
Wevers, Marijke R, Ausems, Margreet G E M, Verhoef, Senno, Bleiker, Eveline M A, Hahn, Daniela E E, Hogervorst, Frans B L, van der Luijt, Rob B, Valdimarsdottir, Heiddis B, van Hillegersberg, Richard, Rutgers, Emiel J T H, Aaronson, Neil K
Published in BMC cancer (10.01.2011)
Published in BMC cancer (10.01.2011)
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No evidence that GATA3 rs570613 SNP modifies breast cancer risk
Johnatty, Sharon E, Couch, Fergus J, Fredericksen, Zachary, Tarrell, Robert, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Gschwantler-Kaulich, Daphne, Singer, Christian F, Fuerhauser, Christine, Fink-Retter, Anneliese, Domchek, Susan M, Nathanson, Katherine L, Pankratz, Vernon S, Lindor, Noralane M, Godwin, Andrew K, Caligo, Maria A, Hopper, John, Southey, Melissa C, Giles, Graham G, Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Heikkinen, Tuomas, Aaltonen, Kirsimari, Aittomäki, Kristiina, Blomqvist, Carl, Nevanlinna, Heli, Hall, Per, Czene, Kamila, Liu, Jianjun, Peock, Susan, Cook, Margaret, Platte, Radka, Gareth Evans, D, Lalloo, Fiona, Eeles, Rosalind, Pichert, Gabriella, Eccles, Diana, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Douglas, Fiona, Chu, Carol, Hodgson, Shirley, Paterson, Joan, Hogervorst, Frans B. L, Rookus, Matti A, Seynaeve, Caroline, Wijnen, Juul, Vreeswijk, Maaike, Ligtenberg, Marjolijn, van der Luijt, Rob B, van Os, Theo A. M, Gille, Hans J. P, Blok, Marinus J, Issacs, Claudine, Humphreys, Manjeet K, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Antoniou, Antonis C, Easton, Douglas F, Chenevix-Trench, Georgia
Published in Breast cancer research and treatment (01.09.2009)
Published in Breast cancer research and treatment (01.09.2009)
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Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis
Korpershoek, Esther, Koffy, Djamailys, Eussen, Bert H, Oudijk, Lindsey, Papathomas, Thomas G, van Nederveen, Francien H, Belt, Eric J. T, Franssen, Gaston J. H, Restuccia, David F. J, Krol, Niels M. G, van der Luijt, Rob B, Feelders, Richard A, Oldenburg, Rogier A, van Ijcken, Wilfred F. J, de Klein, Annelies, de Herder, Wouter W, de Krijger, Ronald R, Dinjens, Winand N. M
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
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Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome
Beijers, Hanneke J B H, Stikkelbroeck, Nike M L, Mensenkamp, Arjen R, Pfundt, Rolph, van der Luijt, Rob B, Timmers, Henri J L M, Hermus, Ad R M M, Kempers, Marlies J E
Published in European journal of endocrinology (01.02.2019)
Published in European journal of endocrinology (01.02.2019)
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
Maxwell, Christopher A, Benítez, Javier, Gómez-Baldó, Laia, Osorio, Ana, Bonifaci, Núria, Fernández-Ramires, Ricardo, Costes, Sylvain V, Guinó, Elisabet, Chen, Helen, Evans, Gareth J R, Mohan, Pooja, Català, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B, Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubiński, Jan, Shugart, Yin Yao, Domchek, Susan M, Letrero, Richard, Weber, Barbara L, Hogervorst, Frans B L, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, Luijt, Rob B van der, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, Roozendaal, Cornelis E P van, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J, Lindor, Noralane M, Wang, Xianshu, Godwin, Andrew K, Caligo, Maria A, Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, Wachenfeldt, Anna von, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U, Lasa, Adriana, Caldés, Trinidad, Andrés, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, João, Tilgner, Hagen, Guigó, Roderic, Aiza, Gemma, Brunet, Joan, Castellsagué, Joan, Martrat, Griselda, Urruticoechea, Ander, Blanco, Ignacio, Tihomirova, Laima
Published in PLoS biology (01.11.2011)
Published in PLoS biology (01.11.2011)
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Quality and Quantity of DNA Isolated from Frozen Urine in Population-Based Research
van der Hel, Olga L., van der Luijt, Rob B., Bas Bueno de Mesquita, H., van Noord, Paul A.H., Slothouber, Barbara, Roest, Mark, van der Schouw, Yvonne T., Grobbee, Diederick E., Pearson, Peter L., Peeters, Petra H.M.
Published in Analytical biochemistry (15.05.2002)
Published in Analytical biochemistry (15.05.2002)
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BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
Published in Journal of medical genetics (01.04.2015)
Published in Journal of medical genetics (01.04.2015)
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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Blanco, Ignacio, Kuchenbaecker, Karoline, Cuadras, Daniel, Wang, Xianshu, Barrowdale, Daniel, de Garibay, Gorka Ruiz, Librado, Pablo, Sánchez-Gracia, Alejandro, Rozas, Julio, Bonifaci, Núria, McGuffog, Lesley, Pankratz, Vernon S, Islam, Abul, Mateo, Francesca, Berenguer, Antoni, Petit, Anna, Català, Isabel, Brunet, Joan, Feliubadaló, Lidia, Tornero, Eva, Benítez, Javier, Osorio, Ana, Ramón y Cajal, Teresa, Nevanlinna, Heli, Aittomäki, Kristiina, Arun, Banu K, Toland, Amanda E, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Greene, Mark H, Mai, Phuong L, Nussbaum, Robert L, Andrulis, Irene L, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Claes, Kathleen, Van Maerken, Tom, Díez, Orland, Hansen, Thomas V, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, de la Hoya, Miguel, Caldés, Trinidad, Dunning, Alison M, Oliver, Clare, Fineberg, Elena, Cook, Margaret, Peock, Susan, McCann, Emma, Murray, Alex, Jacobs, Chris, Pichert, Gabriella, Lalloo, Fiona, Chu, Carol, Dorkins, Huw, Paterson, Joan, Ong, Kai-Ren, Teixeira, Manuel R, Hogervorst, Frans B L, van der Hout, Annemarie H, Seynaeve, Caroline, van der Luijt, Rob B, Ligtenberg, Marjolijn J L, Devilee, Peter, Wijnen, Juul T, Rookus, Matti A, Meijers-Heijboer, Hanne E J, Blok, Marinus J, van den Ouweland, Ans M W, Aalfs, Cora M, Rodriguez, Gustavo C, Phillips, Kelly-Anne A, Piedmonte, Marion, Nerenstone, Stacy R, Bae-Jump, Victoria L, O'Malley, David M, Ratner, Elena S, Schmutzler, Rita K, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg J, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda
Published in PloS one (01.04.2015)
Published in PloS one (01.04.2015)
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