Search Results - "van der Luijt, Rob. B."

MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients by 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

“…Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of…”
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Genetic analysis of von Hippel-Lindau disease by 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

“…Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well…”
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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 by 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

“…We previously showed that the variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC)…”
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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 by PIETERMAN, Carolina R. C, HULSTEIJN, Leonie T. Van, DEN HEIJER, Martin, DER LUIJT, Rob B. Van, BONENKAMP, J. J, HERMUS, R. M. M, BOREL RINKES, Inne H. M, VRIENS, Menno R, VALK, Gerlof D

“…To identify the optimal surgical strategy for multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism (pHPT). To describe the course of…”
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Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations by 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

“…Pituitary adenomas are common neoplasms of the anterior pituitary gland. Germ-line mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene…”
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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 by 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

“…Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these…”
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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? by 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

“…This observational study aimed to investigate whether the reported association between family history (FH) of breast cancer (BC) or ovarian cancer (OC) and OC…”
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HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriers by 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

“…Recent studies have revealed that BRCA1 and BRCA2 germline mutation-related breast cancers show frequent overexpression of hypoxia inducible factor-1α…”
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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences by Velthuizen, Mary E, van der Luijt, Rob B, de Vries, Beja J, Koudijs, Marco J, Bleiker, Eveline M A, Ausems, Margreet G E M

“…CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic…”
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Tissue Selectivity in Multiple Endocrine Neoplasia Type 1-Associated Tumorigenesis by GRACANIN, Ana, DREIJERINK, Koen M. A, VAN DER LUIJT, Rob B, LIPS, Cornelis J. M, HÖPPENER, Jo W. M

“…The phenotype of the multiple endocrine neoplasia type 1 (MEN1) syndrome cannot be explained solely by the expression pattern of the predisposing gene MEN1 and…”
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A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting by 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.

“…Rapid and reliable identification of deleterious changes in the breast cancer genes BRCA1 and BRCA2 has become one of the major issues in most DNA services…”
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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 by 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

“…It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2…”
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Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer by van der Tuin, Karin, Ruano, Dina, Knijnenburg, Jeroen, van der Luijt, Rob B, Morreau, Hans, Links, Thera P, Hes, Frederik J, Klein Hesselink, Mariëlle S, Nies, Marloes, Bocca, Gianni, Brouwers, Adrienne H, Burgerhof, Johannes G M, van Dam, Eveline W C M, Havekes, Bas, van den Heuvel-Eibrink, Marry M, Corssmit, Eleonora P M, Kremer, Leontien C M, Netea-Maier, Romana T, van der Pal, Helena J H, Peeters, Robin P, Plukker, John T M, Ronckers, Cécile M, van Santen, Hanneke M, Smit, Jan W A, Links, Thera P, Tissing, Wim J E, van der Tuin, Karin, Hes, Frederik J, van Velsen, Evert F, van Leeuwaarde, Rachel S

“…Abstract Context The underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predictive testing of family…”
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No evidence that GATA3 rs570613 SNP modifies breast cancer risk by 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

“…GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been…”
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Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis by 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

“…Context: Familial pheochromocytoma (PCC) has been associated with germline mutations in 16 genes. Here we investigated three siblings presenting with bilateral…”
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Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome by 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

“…Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed…”
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer by 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

“…Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation…”
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Quality and Quantity of DNA Isolated from Frozen Urine in Population-Based Research by 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.

“…In several population-based studies in the past urine samples were collected and stored for future research. We set out to determine the reliability of using…”
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BRCA1 Circos: a visualisation resource for functional analysis of missense variants by 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

“…Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer…”
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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers by 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

“…While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may…”
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