Browsing by Author "Ligtenberg, M.J.L."

Now showing items 1-50 of 212

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice
Ellison, G.; Ahdesmaki, Miika; Luke, Sally; Waring, Paul M.; Wallace, Andrew; Wright, Ronnie; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Mills, John; Barrett, J.Carl
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 3, (2018), pp. 394-405)
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
Weren, R.D.A.; Ligtenberg, M.J.L. ; Geurts van Kessel, A. ; Voer, R.M. de; Hoogerbrugge, N. ; Kuiper, R.P.
2018, Article / Letter to editor (Journal of Pathology, vol. 244, iss. 2, (2018), pp. 135-142)
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Diets, I.J. ; Waanders, E. ; Ligtenberg, M.J.L. ; Bladel, D.A.G. van ; Kamping, E.J. ; Hoogerbrugge, P.M. ; Hopman, S.; Olderode-Berends, M.J.; Gerkes, E.H.; Koolen, D.A. ; Marcelis, C.L. ; Santen, G.W.E.; Belzen, M.J. van; Mordaunt, D.; McGregor, L.; Thompson, E.; Kattamis, A.; Pastorczak, A.; Mlynarski, W.; Ilencikova, D.; Vulto-van Silfhout, A.T. ; Gardeitchik, T. ; Bont, E.S. de; Loeffen, J.; Wagner, A.; Mensenkamp, A.R. ; Kuiper, R.P. ; Hoogerbrugge, N. ; Jongmans, M.C. et al. sine al.
2018, Article / Letter to editor (Clinical Cancer Research, vol. 24, iss. 7, (2018), pp. 1594-1603)
Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer
Crobach, Stijn; Jansen, Anne M.L.; Ligtenberg, M.J.L. ; Koopmans, Marije; Nielsen, M.; Hes, F.J.; Wezel, T. van; Morreau, H.
2018, Article / Letter to editor (Familial Cancer, vol. 17, iss. 3, (2018), pp. 415-420)
RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment
Tack, V.; Ligtenberg, M.J.L. ; Siebers, A.G. ; Rombout, P.D.M. ; Dabir, P.D. ; Weren, R.D.A.; Krieken, J.H.J.M. van ; Dequeker, E.M.
2018, Article / Letter to editor (Virchows Archiv, vol. 472, iss. 5, (2018), pp. 717-725)
Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients
Capoluongo, E.; Ellison, G.; Lopez-Guerrero, J.A.; Penault-Llorca, F.; Ligtenberg, M.J.L. ; Banerjee, S.; Singer, C.; Friedman, E.; Markiefka, B.; Schirmacher, P.; Buttner, R.; Asperen, C.J. van; Ray-Coquard, I.; Endris, V.; Kamel-Reid, S.; Percival, N.; Bryce, J.; Rothlisberger, B.; Soong, R.; Castro, D.G. de et al. sine al.
2017, Article / Letter to editor (Seminars in Oncology, vol. 44, iss. 3, (2017), pp. 187-197)
Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL
Deans, Z.C.; Costa, J.L.; Cree, I.; Dequeker, E.; Edsjo, A.; Henderson, S.; Hummel, M.; Ligtenberg, M.J.L. ; Loddo, M.; Machado, J.C.; Marchetti, A.; Marquis, K.; Mason, J.; Normanno, N.; Rouleau, E.; Schuuring, E.; Snelson, K.M.; Thunnissen, E.; Tops, B.B.; Williams, G.; Krieken, H. van ; Hall, J.A. et al. sine al.
2017, Article / Letter to editor (Virchows Archiv, vol. 470, iss. 1, (2017), pp. 5-20)
BRCA Testing by Single-Molecule Molecular Inversion Probes
Neveling, K. ; Mensenkamp, A.R. ; Derks, R; Kwint, M.P.; Ouchene, H.; Steehouwer, M. ; Lier, L.A. van; Bosgoed, E.A.J.; Rikken, A.; Tychon, M.W.J.; Zafeiropoulou, D.; Castelein, S.; Hehir-Kwa, J.Y. ; Thung, G.W.; Hofste, T.; Lelieveld, S.H.; Bertens, S.M.; Adan, I.B.; Eijkelenboom, A.; Tops, B.B.J.; Yntema, H.G. ; Stokowy, T.; Knappskog, P.M.; Hoberg-Vetti, H.; Steen, V.M.; Boyle, E.; Martin, B.; Ligtenberg, M.J.L. ; Shendure, J.; Nelen, M.R. ; Hoischen, A. et al. sine al.
2017, Article / Letter to editor (Clinical Chemistry, vol. 63, iss. 2, (2017), pp. 503-512)
Using a semi-conductor sequencing-based panel for genotyping of HPV-positive and HPV-negative oropharyngeal cancer: a retrospective pilot study
Ham, J.C. ; Tops, B.B.J.; Driessen, C.M.L.; Raaij, A.W. van; Slootweg, P.J. ; Melchers, W.J.G. ; Ligtenberg, M.J.L. ; Herpen, C.M.L. van
2017, Article / Letter to editor (Clinical Otolaryngology, vol. 42, iss. 3, (2017), pp. 681-686)
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
Vogelaar, I.P.; Post, R.S. van der; Krieken, J.H. van ; Spruijt, L. ; Zelst-Stams, W.A.G. van; Kets, C.M. ; Lubinski, J.; Jakubowska, A.; Teodorczyk, U.; Aalfs, C.M.; Hest, L.P. van; Pinheiro, H.; Oliveira, C. de; Jhangiani, S.N.; Muzny, D.M.; Gibbs, R.A.; Lupski, J.R.; Ligt, J. de ; Vissers, L.E.L.M. ; Hoischen, A. ; Gilissen, C. ; Vorst, J.M. van de; Goeman, J.J. ; Schackert, H.K.; Ranzani, G.N.; Molinaro, V.; Garcia, E.B.; Hes, F.J.; Holinski-Feder, E.; Genuardi, M.; Ausems, M.; Sijmons, R.H.; Wagner, A.; Kolk, L.E. van der; Bjornevoll, I.; Hoberg-Vetti, H.; Geurts van Kessel, A.H.M. ; Kuiper, R.P. ; Ligtenberg, M.J.L. ; Hoogerbrugge, N. et al. sine al.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 11, (2017), pp. 1246-1252)
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren, R.D.A.; Mensenkamp, A.R. ; Simons, M.; Eijkelenboom, A.; Sie, A.S.; Ouchene, H.; Asseldonk, M. van; Gomez-Garcia, E.B.; Blok, M.J.; Hullu, J.A. de ; Nelen, M.R. ; Hoischen, A. ; Bulten, J. ; Tops, B.B.J.; Hoogerbrugge, N. ; Ligtenberg, M.J.L. et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 2, (2017), pp. 226-235)
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Zhang, J.; Wang, W.; Voer, R.M. de; Hehir-Kwa, J.Y. ; Kamping, E.J. ; Weren, R.D.A.; Nelen, M.; Hoischen, A. ; Ligtenberg, M.J.L. ; Hoogerbrugge, N. ; Yang, X; Yang, Z; Fan, X.; Wang, L.; Liu, H.; Wang, J; Kuiper, R.P. ; Geurts van Kessel, A.H.M. et al. sine al.
2017, Article / Letter to editor (Oncotarget, vol. 8, (2017), pp. 24533-24547)
The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery
Hahn, M.M.; Voer, R.M. de; Hoogerbrugge, N. ; Ligtenberg, M.J.L. ; Kuiper, R.P. ; Kessel, A.G. van
2016, Article / Letter to editor (Cellular Oncology (2011. Print), vol. 39, iss. 6, (2016), pp. 491-510)
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Sie, A.S.; Spruijt, L. ; Zelst-Stams, W.A.G. van; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Brunner, H.G. ; Prins, J.B. ; Hoogerbrugge, N.
2016, Article / Letter to editor (Journal of Genetic Counseling, vol. 25, iss. 3, (2016), pp. 504-514)
RAS testing in metastatic colorectal cancer: advances in Europe
Krieken, J.H.J.M. van ; Rouleau, E.; Ligtenberg, M.J.L. ; Normanno, N.; Patterson, S.D.; Jung, A.
2016, Article / Letter to editor (Virchows Archiv, vol. 468, iss. 4, (2016), pp. 383-396)
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer
Hahn, M.M.; Vreede, L.A. ; Bemelmans, S.AS.A.; Looij, E. van der; Geurts van Kessel, A.H.M. ; Schackert, H.K.; Ligtenberg, M.J. ; Hoogerbrugge, N. ; Kuiper, R.P. ; Voer, R.M. de
2016, Article / Letter to editor (Genes, Chromosomes & Cancer, vol. 55, iss. 11, (2016), pp. 855-863)
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
Voer, R.M. de; Hahn, M.M.; Weren, R.D.A.; Mensenkamp, A.R. ; Gilissen, C.F. ; Zelst-Stams, W.A. van; Spruijt, L. ; Kets, C.M. ; Zhang, J.Z; Venselaar, H. ; Vreede, L.A. ; Schubert, N.; Tychon, M.W.J.; Derks, R; Schackert, H.K.; Geurts van Kessel, A.H. ; Hoogerbrugge, N. ; Ligtenberg, M.J. ; Kuiper, R.P. et al. sine al.
2016, Article / Letter to editor (Plos Genetics, vol. 12, iss. 2, (2016), pp. e1005880)
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
Klift, H.M. van der; Mensenkamp, A.R. ; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.; Redeker, B.E.; Tiersma, Y.; Zonneveld, J.B.; Garcia, E.G.; Letteboer, T.G.; Olderode-Berends, M.J.; Hest, L.P. van; Os, T.A. van; Verhoef, S.; Wagner, A.; Asperen, C.J. van; Broeke, S.W. ten; Hes, F.J.; Wind, N. de; Nielsen, M.; Devilee, P.; Ligtenberg, M.J.L. ; Wijnen, J.T.; Tops, C.M. et al. sine al.
2016, Article / Letter to editor (Human Mutation, vol. 37, iss. 11, (2016), pp. 1162-1179)
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
Jongmans, M.C. ; Loeffen, J.L.C.M. ; Waanders, E. ; Hoogerbrugge, P.M. ; Ligtenberg, M.J. ; Kuiper, R.P. ; Hoogerbrugge, N.
2016, Article / Letter to editor (European Journal of Medical Genetics, vol. 59, iss. 3, (2016), pp. 116-125)
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Vogelaar, I.P.; Ligtenberg, M.J. ; Post, R.S. van der; Voer, R.M. de; Kets, C.M. ; Jansen, T.J. ; Jacobs, L. ; Schreibelt, G. ; Vries, I.J. de ; Netea, M.G. ; Hoogerbrugge, N. et al. sine al.
2016, Article / Letter to editor (Familial Cancer, vol. 15, iss. 2, (2016), pp. 289-296)
Opportunities for immunotherapy in microsatellite instable colorectal cancer
Westdorp, H.; Fennemann, F.L.; Weren, R.D.A.; Bisseling, T.M.; Ligtenberg, M.J. ; Figdor, C.G. ; Schreibelt, G. ; Hoogerbrugge, N. ; Wimmers, F.; Vries, I.J.M. de
2016, Article / Letter to editor (Cancer Immunology Immunotherapy, vol. 65, iss. 10, (2016), pp. 1249-1259)
Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags
Eijkelenboom, A.; Kamping, E.J. ; Raaij, A.W. van; Hendriks-Cornelissen, S.J.; Neveling, K. ; Kuiper, R.P. ; Hoischen, A. ; Nelen, M.R. ; Ligtenberg, M.J.L. ; Tops, B.B.J.
2016, Article / Letter to editor (Journal of Molecular Diagnostics, vol. 18, iss. 6, (2016), pp. 851-863)
RAS testing in metastatic colorectal cancer: excellent reproducibility amongst 17 Dutch pathology centers
Boleij, A. ; Tops, B.B.; Rombout, P.D.; Dequeker, E.M.; Ligtenberg, M.J. ; Krieken, J.H.J.M. van
2015, Article / Letter to editor (Oncotarget, vol. 6, iss. 17, (2015), pp. 15681-15689)
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases
Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L. ; Hoogerbrugge, N. ; Kuiper, R.P. ; Sheng, J.Q.; Geurts van Kessel, A.H.M. et al. sine al.
2015, Article / Letter to editor (World Journal of Gastroenterology, vol. 21, iss. 14, (2015), pp. 4136-4149)
NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report
Blokx, W.A.M. ; Rabold, K.; Bovenschen, H.J.; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Lijnschoten, G. van; Zelst-Stams, W.A.G. van; Groenen, P.J.T.A.
2015, Article / Letter to editor (Virchows Archiv, vol. 466, iss. 1, (2015), pp. 117-121)
The homogeneous mutation status of a 22 gene panel justifies the use of serial sections of colorectal cancer tissue for external quality assessment
Dijkstra, J.R. ; Tops, B.B.J.; Nagtegaal, I.D. ; Krieken, J.H.J.M. van ; Ligtenberg, M.J.L.
2015, Article / Letter to editor (Virchows Archiv, vol. 467, iss. 3, (2015), pp. 273-278)
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
Vogelaar, I.P.; Post, R.S. van der; Vosse, E. van de; Krieken, J.H.J.M. van ; Hoogerbrugge, N. ; Ligtenberg, M.J. ; Garcia, E.
2015, Article / Letter to editor (Familial Cancer, vol. 14, iss. 1, (2015), pp. 89-94)
External Quality Assessment Unravels Interlaboratory Differences in Quality of RAS Testing for Anti-EGFR Therapy in Colorectal Cancer
Tack, V.; Ligtenberg, M.J.L. ; Tembuyser, L.; Normanno, N.; Borght, S. van der; Krieken, J.H. van ; Dequeker, E.M.
2015, Article / Letter to editor (Oncologist, vol. 20, iss. 3, (2015), pp. 257-262)
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
Voer, R.M. de; Hahn, M.M.; Mensenkamp, A.R. ; Hoischen, A. ; Gilissen, C.F. ; Henkes, A.; Spruijt, L. ; Zelst-Stams, W.A. van; Kets, C.M. ; Verwiel, E.T.P. ; Nagtegaal, I.D. ; Schackert, H.K.; Kessel, A.G. van ; Hoogerbrugge, N. ; Ligtenberg, M.J. ; Kuiper, R.P. et al. sine al.
2015, Article / Letter to editor (Scientific Reports, vol. 5, (2015), pp. 14060)
Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium
Tops, B.B.J.; Normanno, N.; Kurth, H.; Amato, E.; Mafficini, A.; Rieber, N.; Corre, D. Le; Rachiglio, A.M.; Reiman, A.; Sheils, O.; Noppen, C.; Lacroix, L.; Cree, I.A.; Scarpa, A.; Ligtenberg, M.J.L. ; Laurent-Puig, P. et al. sine al.
2015, Article / Letter to editor (BMC Cancer, vol. 15, (2015), pp. 26)
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Blanco, I.; Kuchenbaecker, K.; Cuadras, D.; Wang, X.; Barrowdale, D.; Garibay, G.R. de; Librado, P.; Sanchez-Gracia, A.; Rozas, J.; Bonifaci, N.; McGuffog, L.; Pankratz, V.S.; Islam, A.; Mateo, F.; Berenguer, A.; Petit, A.; Catala, I.; Brunet, J.; Feliubadalo, L.; Tornero, E.; Benitez, J.; Osorio, A.; Ramon Y Cajal, T.; Nevanlinna, H.; Aittomaki, K.; Arun, B.K.; Toland, A.E.; Karlan, B.Y.; Walsh, C.; Lester, J.; Greene, M.H.; Mai, P.L.; Nussbaum, R.L.; Andrulis, I.L.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Barkardottir, R.B.; Jakubowska, A.; Lubinski, J.; Durda, K.; Jaworska-Bieniek, K.; Claes, K.; Maerken, T. Van; Diez, O.; Hansen, T.V.; Jonson, L.; Gerdes, A.M.; Ejlertsen, B.; Hoya, M. de la; Caldes, T.; Dunning, A.M.; Oliver, C.; Fineberg, E.; Cook, M.; Peock, S.; McCann, E.; Murray, A.; Jacobs, C; Pichert, G.; Lalloo, F.; Chu, C.; Dorkins, H.; Paterson, J.; Ong, K.R.; Teixeira, M.R.; Hogervorst, F.B.; Hout, A.H. van der; Seynaeve, C.; Luijt, R.B. van der; Ligtenberg, M.J. ; Devilee, P.; Wijnen, J.T.; Rookus, M.A.; Meijers-Heijboer, H.E.; Blok, M.J.; Ouweland, A.M. van den; Aalfs, C.M.; Rodriguez, G.C.; Phillips, K.A.; Piedmonte, M.; Nerenstone, S.R.; Bae-Jump, V.L.; O'Malley, D.M.; Ratner, E.S.; Schmutzler, R.K.; Wappenschmidt, B.; Rhiem, K.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Plendl, H.J.; Niederacher, D.; Sutter, C.; Wang-Gohrke, S.; Steinemann, D.; Preisler-Adams, S.; Kast, K.; Varon-Mateeva, R.; et al. et al. sine al.
2015, Article / Letter to editor (PLoS One, vol. 10, iss. 4, (2015), pp. e0120020)
Massive gastric polyposis associated with a germline SMAD4 gene mutation
Soer, E.; Vos tot Nederveen Cappel, W.H. de; Ligtenberg, M.J. ; Moll, F.; Pierik, R.G.; Vecht, J.; Vasen, H.F.A.; Flierman, A.
2015, Article / Letter to editor (Familial Cancer, vol. 14, iss. 4, (2015), pp. 569-573)
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
Elsayed, F.A.; Kets, C.M. ; Ruano, D.; Akker, B. van den; Mensenkamp, A.R. ; Schrumpf, M.; Nielsen, M.; Wijnen, J.T.; Tops, C.M.; Ligtenberg, M.J. ; Vasen, H.F.A.; Hes, F.J.; Morreau, H.; Wezel, T. van et al. sine al.
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 8, (2015), pp. 1080-1084)
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development
Weren, R.D.A.; Venkatachalam, R. ; Cazier, J.B.; Farin, H.F.; Kets, C.M. ; Voer, R.M. de; Vreede, L.A.J. ; Verwiel, E.T.P. ; Asseldonk, M.G. van; Kamping, E.J. ; Kiemeney, L.A.L.M. ; Neveling, K. ; Aben, K.K.H. ; Carvajal-Carmona, L.; Nagtegaal, I.D. ; Schackert, H.K.; Clevers, H.; Wetering, M van de; Tomlinson, I.P.; Ligtenberg, M.J.L. ; Hoogerbrugge, N. ; Geurts van Kessel, A.H.M. ; Kuiper, R.P. et al. sine al.
2015, Article / Letter to editor (Journal of Pathology, vol. 236, iss. 2, (2015), pp. 155-164)
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek, T.; Kraaijeveld, K.; Elferink, M.; Ligt, J. de ; Kranendonk, E.; Santen, G.; Nijman, IJ; Butler, D.; Claes, G.; Costessi, A.; Dorlijn, W.; Eyndhoven, W. van; Halley, D.J.; Hout, M.C. van den; Hove, S. van; Johansson, L.F.; Jongbloed, J.D.; Kamps, R.; Kockx, C.E.; Koning, B. de; Kriek, M.; Deprez, R.L.; Lunstroo, H.; Mannens, M.; Mook, O.R.; Nelen, M.; Ploem, C.; Rijnen, M.; Saris, J.J.; Sinke, R.; Sistermans, E.; Slegtenhorst, M. van; Sleutels, F.; Stoep, N. van der; Tienhoven, M. van; Vermaat, M.; Vogel, M.; Waisfisz, Q.; Weiss, J.M.; Wijngaard, A. van den; Workum, W. van; IJntema, H.; Zwaag, B. van der; van, I.W.F.; Dunnen, J.T. den; Veltman, J.A. ; Hennekam, R.; Cuppen, E. et al. sine al.
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 9, (2015), pp. 1270)
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker, K.B.; Ramus, S.J.; Tyrer, J.; Lee, A.; Shen, H.C.; Beesley, J.; Lawrenson, K.; McGuffog, L.; Healey, S.; Lee, J.M.; Spindler, T.J.; Lin, Y.G.; Pejovic, T.; Bean, Y.; Li, Q.; Coetzee, S.; Hazelett, D.; Miron, A.; Southey, M.; Terry, M.B.; Goldgar, D.E.; Buys, S.S.; Janavicius, R.; Dorfling, C.M.; Rensburg, E.J. van; Neuhausen, S.L.; Ding, Y.C.; Hansen, T.V.; Jonson, L.; Gerdes, A.M.; Ejlertsen, B.; Barrowdale, D.; Dennis, J.; Benitez, J.; Osorio, A.; Garcia, M.J.; Komenaka, I.; Weitzel, J.N.; Ganschow, P.; Peterlongo, P.; Bernard, L.; Viel, A.; Bonanni, B.; Peissel, B.; Manoukian, S.; Radice, P.; Papi, L.; Ottini, L.; Fostira, F.; Konstantopoulou, I.; Garber, J.; Frost, D.; Perkins, J.; Platte, R.; Ellis, S.; Embrace, .; Godwin, A.K.; Schmutzler, R.K.; Meindl, A.; Engel, C.; Sutter, C.; Sinilnikova, O.M.; Damiola, F.; Mazoyer, S.; Stoppa-Lyonnet, D.; Claes, K.; Leeneer, K. De; Kirk, J.; Rodriguez, G.C.; Piedmonte, M.; O'Malley, D.M.; Hoya, M. de la; Caldes, T.; Aittomaki, K.; Nevanlinna, H.; Collee, J.M.; Rookus, M.A.; Oosterwijk, J.C; Tihomirova, L.; Tung, N.; Hamann, U.; Isaccs, C.; Tischkowitz, M.; Imyanitov, E.N.; Caligo, M.A.; Campbell, I.G.; Hogervorst, F.B.; Olah, E.; Diez, O.; Blanco, I.; Brunet, J.; Lazaro, C.; Pujana, M.A.; Jakubowska, A.; Gronwald, J.; Lubinski, J.; Sukiennicki, G.; Massuger, L.F.A.G. ; Altena, A.M. van ; Aben, K.K.H. ; Kiemeney, B. ; Mensenkamp, A.R. ; Kets, M. ; Hoogerbrugge, N. ; Ligtenberg, M.J.L. ; et al. et al. sine al.
2015, Article / Letter to editor (Nature Genetics, vol. 47, iss. 2, (2015), pp. 164-171)
EMAST Is Associated with a Poor Prognosis in Microsatellite Instable Metastatic Colorectal Cancer
Venderbosch, S.; Vliet, S. van; Haan, A.F.J. de; Ligtenberg, M.J.L. ; Goossens, M.; Punt, C.J.A. ; Koopman, M. ; Nagtegaal, I.D.
2015, Article / Letter to editor (PLoS One, vol. 10, iss. 4, (2015), pp. e0124538)
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Zazo Seco, C.; Castro, L.S. de; Nierop, J.W. van; Morin, M.; Jhangiani, S.; Verver, E.J.; Schraders, M. ; Maiwald, N.; Wesdorp, F.M.; Venselaar, H. ; Spruijt, L. ; Oostrik, J. ; Schoots, J.; Reeuwijk, J. van ; Lelieveld, S.H.; Huygen, P.L.M. ; Insenser, M.; Admiraal, R.J.C. ; Pennings, R.J.E. ; Hoefsloot, L.H. ; Arias Vasquez, A. ; Ligt, J. de ; Yntema, H.G. ; Jansen, J.H. ; Muzny, D.M.; Huls, G.A.; Rossum, M.M. van ; Lupski, J.R.; Moreno-Pelayo, M.A.; Kunst, H.P.M. ; Kremer, H. et al. sine al.
2015, Article / Letter to editor (American Journal of Human Genetics, vol. 97, iss. 5, (2015), pp. 647-660)
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
Post, R.S. van der; Vogelaar, I.P.; Carneiro, F.; Guilford, P.; Huntsman, D.; Hoogerbrugge, N. ; Caldas, C.; Schreiber, K.E.; Hardwick, R.H.; Ausems, M.G.E.M.; Bardram, L.; Benusiglio, P.R.; Bisseling, T.M.; Blair, V.; Bleiker, E.; Boussioutas, A.; Cats, A.; Coit, D.; DeGregorio, L.; Figueiredo, J.; Ford, J.M.; Heijkoop, E.; Hermens, R.P. ; Humar, B.; Kaurah, P.; Keller, G.; Lai, J.; Ligtenberg, M.J. ; O'Donovan, M.; Oliveira, C.; Pinheiro, H.; Ragunath, K.; Rasenberg, E.; Richardson, S.; Roviello, F.; Schackert, H.; Seruca, R.; Taylor, A.; Huurne, A. Ter; Tischkowitz, M.; Joe, S.T.; Dijck, B. van; Grieken, N.C. van; Hillegersberg, R. van; Sandick, J.W. van; Vehof, M.E.J. ; Krieken, J.H.J.M. van ; Fitzgerald, R.C. et al. sine al.
2015, Article / Letter to editor (Journal of Medical Genetics, vol. 52, iss. 6, (2015), pp. 361-374)
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
Bosch, D.G.; Boonstra, F.N.; Kinoshita, T.; Jhangiani, S.; Ligt, J. de ; Cremers, F.P.M. ; Lupski, J.R.; Murakami, Y.; Vries, B. de
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 12, (2015), pp. 1689-1693)
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
Post, R.S. van der; Vogelaar, I.P.; Manders, P. ; Kolk, L.E. van der; Cats, A.; Hest, L.P. van; Sijmons, R.; Aalfs, C.M.; Ausems, M.G.; Garcia, E.B.; Wagner, A.; Hes, F.J.; Arts, N.; Mensenkamp, A.R. ; Krieken, J.H.J.M. van ; Hoogerbrugge, N. ; Ligtenberg, M.J. et al. sine al.
2015, Article / Letter to editor (Gastroenterology, vol. 149, iss. 4, (2015), pp. 897-906.e19)
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Weren, R.D.A.; Ligtenberg, M.J. ; Kets, C.M. ; Voer, R.M. de; Verwiel, E.T.P. ; Spruijt, L. ; Zelst-Stams, W.A.G. van; Jongmans, M.C.J. ; Gilissen, C.; Hehir, J.Y. ; Hoischen, A. ; Shendure, J.; Boyle, E.A.; Kamping, E.J. ; Nagtegaal, I.D. ; Tops, B.B.J.; Nagengast, F.M. ; Geurts van Kessel, A.H.M. ; Krieken, J.H.J.M. van ; Kuiper, R.P. ; Hoogerbrugge, N. et al. sine al.
2015, Article / Letter to editor (Nature Genetics, vol. 47, iss. 6, (2015), pp. 668-671)
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
Sie, A.S.; Zelst-Stams, W.A.G. van; Spruijt, L. ; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Brunner, H.G. ; Prins, J.B. ; Hoogerbrugge, N.
2014, Article / Letter to editor (Familial Cancer, vol. 13, iss. 2, (2014), pp. 143-151)
Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective
Sie, A.S.; Mensenkamp, A.R. ; Adang, E.M. ; Ligtenberg, M.J. ; Hoogerbrugge, N.
2014, Article / Letter to editor (Annals of Oncology, vol. 25, iss. 10, (2014), pp. 2001-2007)
Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
Mensenkamp, A.R. ; Vogelaar, I.P.; Zelst-Stams, W.A.G. van; Goossens, M.; Ouchene, H.; Hendriks-Cornelissen, S.J.; Kwint, M.P.; Hoogerbrugge, N. ; Nagtegaal, I.D. ; Ligtenberg, M.J.L.
2014, Article / Letter to editor (Gastroenterology, vol. 146, iss. 3, (2014), pp. 643-646 e8)
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
Kwok, C.T.; Vogelaar, I.P.; Zelst-Stams, W.A.G. van; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Rapkins, R.W.; Ward, R.L.; Chun, N.; Ford, J.M.; Ladabaum, U.; McKinnon, W.C.; Greenblatt, M.S.; Hitchins, M.P. et al. sine al.
2014, Article / Letter to editor (European Journal of Human Genetics, vol. 22, iss. 5, (2014), pp. 617-624)
Higher Quality of Molecular Testing, an Unfulfilled Priority: Results from External Quality Assessment for KRAS Mutation Testing in Colorectal Cancer
Tembuyser, L.; Ligtenberg, M.J.L. ; Normanno, N.; Delen, S.; Krieken, J.H.J.M. van ; Dequeker, E.M.
2014, Article / Letter to editor (Journal of Molecular Diagnostics, vol. 16, iss. 3, (2014), pp. 371-377)
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
Wielders, E.A.; Hettinger, J.; Dekker, R.; Kets, C.M. ; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Ouweland, A.M. van den; Prins, J.; Wagner, A.; Dinjens, W.N.; Dubbink, H.J.; Hest, L.P. van; Menko, F.; Hogervorst, F.; Verhoef, S.; Riele, H. te et al. sine al.
2014, Article / Letter to editor (Journal of Medical Genetics, vol. 51, iss. 4, (2014), pp. 245-253)
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto, S.; Jaiswal, M.; Charng, W.L.; Gambin, T.; Karaca, E.; Mirzaa, G.; Wiszniewski, W.; Sandoval, H.; Haelterman, N.A.; Xiong, B.; Zhang, K.; Bayat, V.; David, G. ; Li, T.; Chen, K.; Gala, U.; Harel, T.; Pehlivan, D.; Penney, S.; Vissers, L.E.L.M. ; Ligt, J. de ; Jhangiani, S.N.; Xie, Y.; Tsang, S.H.; Parman, Y.; Sivaci, M.; Battaloglu, E.; Muzny, D.; Wan, Y.W.; Liu, Z.; Lin-Moore, A.T.; Clark, R.D.; Curry, C.J.; Link, N.; Schulze, K.L.; Boerwinkle, E.; Dobyns, W.B.; Allikmets, R. ; Gibbs, R.A.; Chen, R.; Lupski, J.R.; Wangler, M.F.; Bellen, H.J. et al. sine al.
2014, Article / Letter to editor (Cell, vol. 159, iss. 1, (2014), pp. 200-214)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Thompson, B.A.; Spurdle, A.B.; Plazzer, J.P.; Greenblatt, M.S.; Akagi, K.; Al-Mulla, F.; Bapat, B.; Bernstein, I.; Capella, G.; Dunnen, J.T. den; Sart, D. du; Fabre, A.; Farrell, M.P.; Farrington, S.M.; Frayling, I.M.; Frebourg, T.; Goldgar, D.E.; Heinen, C.D.; Holinski-Feder, E.; Kohonen-Corish, M.; Robinson, K.L.; Leung, S.Y.; Martins, A.; Moller, P.; Morak, M.; Nystrom, M.; Peltomaki, P.; Pineda, M.; Qi, M.; Ramesar, R.; Rasmussen, L.J.; Royer-Pokora, B.; Scott, R.J.; Sijmons, R.; Tavtigian, S.V.; Tops, C.M.; Weber, T.; Wijnen, J.; Woods, M.O.; Macrae, F.; Genuardi, M.; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; et al. et al. sine al.
2014, Article / Letter to editor (Nature Genetics, vol. 46, iss. 2, (2014), pp. 107-115)

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