Search Results - "Letteboer, Tom"

Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome by ENGEL, Christoph, LOEFFLER, Markus, SCHMIEGEL, Wolff, BUETTNER, Reinhard, MOESLEIN, Gabriela, LETTEBOER, Tom G. W, GOMEZ GARCIA, Encarna, HES, Frederik J, HOOGERBRUGGE, Nicoline, MENKO, Fred H, VAN OS, Theo A. M, SIJMONS, Rolf H, STEINKE, Verena, WAGNER, Anja, KLUIJT, Irma, PROPPING, Peter, VASEN, Hans F. A, RAHNER, Nils, HOLINSKI-FEDER, Elke, DIETMAIER, Wolfgang, SCHACKERT, Hans K, GOERGENS, Heike, VON KNEBEL DOEBERITZ, Magnus, GOECKE, Timm O

“…Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this…”
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Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk by 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

“…The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim…”
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Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation by Postema, Floor A.M, Hopman, Saskia M.J, Aalfs, Cora M, Berger, Lieke P.V, Bleeker, Fonnet E, Dommering, Charlotte J, Jongmans, Marjolijn C.J, Letteboer, Tom G.W, Olderode-Berends, Maran J.W, Wagner, Anja, Hennekam, Raoul C, Merks, Johannes H.M

“…Abstract Introduction Recognising a tumour predisposition syndrome (TPS) in childhood cancer patients is of major clinical relevance. The presence of a TPS may…”
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Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans by Kawasaki, Kyoko, Freimuth, Julia, Meyer, Dominique S., Lee, Marie M., Tochimoto-Okamoto, Akiko, Benzinou, Michael, Clermont, Frederic F., Wu, Gloria, Roy, Ritu, Letteboer, Tom G. W., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaeten, Westermann, Cornelius J. J., Coffey, Robert J., Akhurst, Rosemary J.

“…Outcome of TGFβ1 signaling is context dependent and differs between individuals due to germ-line genetic variation. To explore innate genetic variants that…”
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Cancer Risks for PMS2-Associated Lynch Syndrome by 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

“…Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial…”
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Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2 by ten Broeke, Sanne W., van Bavel, Tom C., Jansen, Anne M.L., Gómez-García, Encarnca, Hes, Frederik J., van Hest, Liselot P., Letteboer, Tom G.W., Olderode-Berends, Maran J.W., Ruano, Dina, Spruijt, Liesbeth, Suerink, Manon, Tops, Carli M., van Eijk, Ronald, Morreau, Hans, van Wezel, Tom, Nielsen, Maartje

“…Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of…”
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Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers by van der Werf-’t Lam, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje

“…Diagnosis of Lynch syndrome (LS) caused by a pathogenic germline MSH6 variant may be complicated by discordant immunohistochemistry (IHC) and/or by a…”
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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline by KLOOSTERMAN, Wigard P, GURYEV, Victor, CUPPEN, Edwin, VAN ROOSMALEN, Mark, DURAN, Karen J, DE BRUIJN, Ewart, BAKKER, Saskia C. M, LETTEBOER, Tom, VAN NESSELROOIJ, Bernadette, HOCHSTENBACH, Ron, POOT, Martin

“…A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used…”
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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers by Jansen, Anne Ml, van Wezel, Tom, van den Akker, Brendy Ewm, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli Mj, Wagner, Anja, Letteboer, Tom Gw, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans

“…Many suspected Lynch Syndrome (sLS) patients who lack mismatch repair (MMR) germline gene variants and MLH1 or MSH2 hypermethylation are currently explained by…”
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Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome by Werf‐'t Lam, Anne‐Sophie, Rodriguez‐Girondo, Mar, Villasmil, Mandy, Tops, Carli M., Hest, Liselotte, Gille, Hans J. P., Duijkers, Floor A. M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G. W., Jong, Mirjam M., Bajwa‐ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez‐Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje

“…Background This study investigates the potential influence of genotype and parent‐of‐origin effects (POE) on the clinical manifestations of Lynch syndrome (LS)…”
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Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia by Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G.W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C.W., Westermann, Cornelius J.J., Akhurst, Rosemary J.

“…Hereditary haemorrhagic telangiectasia (HTT) is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein…”
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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome by van der Klift, Heleen M., Mensenkamp, Arjen R., Drost, Mark, Bik, Elsa C., Vos, Yvonne J., Gille, Hans J.J.P., Redeker, Bert E.J.W., Tiersma, Yvonne, Zonneveld, José B.M., García, Encarna Gómez, Letteboer, Tom G.W., Olderode-Berends, Maran J.W., van Hest, Liselotte P., van Os, Theo A., Verhoef, Senno, Wagner, Anja, van Asperen, Christi J., ten Broeke, Sanne W., Hes, Frederik J., de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J.L., Wijnen, Juul T., Tops, Carli M.J.

“…ABSTRACT Monoallelic PMS2 germline mutations cause 5%–15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause…”
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Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? by van Gent, Marco W.F., Velthuis, Sebastiaan, Post, Martijn C., Snijder, Repke J., Westermann, Cornelis J.J., Letteboer, Tom G.W., Mager, Johannes J.

“…The clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) is based on the Curaçao criteria. Three out of four criteria are required for a definite…”
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Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients by Jansen, Anne M L, Geilenkirchen, Marije A, van Wezel, Tom, Jagmohan-Changur, Shantie C, Ruano, Dina, van der Klift, Heleen M, van den Akker, Brendy E W M, Laros, Jeroen F J, van Galen, Michiel, Wagner, Anja, Letteboer, Tom G W, Gómez-García, Encarna B, Tops, Carli M J, Vasen, Hans F, Devilee, Peter, Hes, Frederik J, Morreau, Hans, Wijnen, Juul T

“…Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer…”
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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study by Postema, Floor A. M., Hopman, Saskia M. J., de Borgie, Corianne A. J. M., Aalfs, Cora M., Anninga, Jakob K., Berger, Lieke P. V., Bleeker, Fonnet E., Dommering, Charlotte J., van Eijkelenburg, Natasha K. A., Hammond, Peter, van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kors, Wijnanda A., Letteboer, Tom G. W., Loeffen, Jan L. C. M., Meijer, Lisethe, Olderode-Berends, Maran J. W., Wagner, Anja, Hennekam, Raoul C., Merks, Johannes H. M.

“…Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic…”
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Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis by Hes, Frederik J, Ruano, Dina, Nieuwenhuis, Marry, Tops, Carli M, Schrumpf, Melanie, Nielsen, Maartje, Huijts, Petra E A, Wijnen, Juul T, Wagner, Anja, Gómez García, Encarna B, Sijmons, Rolf H, Menko, Fred H, Letteboer, Tom G W, Hoogerbrugge, Nicoline, Harryvan, Jan, Kampman, Ellen, Morreau, Hans, Vasen, Hans F A, van Wezel, Tom

“…Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH…”
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Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia by Letteboer, Tom G.W., Mager, Hans-Jurgen, Snijder, Repke J., Lindhout, Dick, Ploos van Amstel, Hans-Kristian, Zanen, Pieter, Westermann, Kees J.J.

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations (AVMs) ranging from telangiectases to…”
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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers by Suerink, Manon, van der Klift, Heleen M., ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G.W., Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A., Rahner, Nils, Redeker, Bert J.W., Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F.A., Tops, Carli M., Wijnen, Juul T., Nielsen, Maartje

“…Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations…”
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The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect by Ten Broeke, Sanne W, Rodríguez-Girondo, Mar, Suerink, Manon, Aretz, Stefan, Bernstein, Inge, Capellá, Gabriel, Engel, Christoph, Gomez-Garcia, Encarna B, van Hest, Liselot P, von Knebel Doeberitz, Magnus, Lagerstedt-Robinson, Kristina, Letteboer, Tom G W, Moller, Pal, van Os, Theo A, Pineda, Marta, Rahner, Nils, Olderode-Berends, Maran J W, von Salomé, Jenny, Schackert, Hans K, Spruijt, Liesbeth, Steinke-Lange, Verena, Wagner, Anja, Tops, Carli M J, Nielsen, Maartje

“…PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age at…”
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SNP association study in PMS2-associated Lynch syndrome by ten Broeke, Sanne W., Elsayed, Fadwa A., Pagan, Lisa, Olderode-Berends, Maran J. W., Garcia, Encarna Gomez, Gille, Hans J. P., van Hest, Liselot P., Letteboer, Tom G. W., van der Kolk, Lizet E., Mensenkamp, Arjen R., van Os, Theo A., Spruijt, Liesbeth, Redeker, Bert J. W., Suerink, Manon, Vos, Yvonne J., Wagner, Anja, Wijnen, Juul T., Steyerberg, E. W., Tops, Carli M. J., van Wezel, Tom, Nielsen, Maartje

“…Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility…”
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