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

Now showing items 1-50 of 214

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)
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)
Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer
Crobach, Stijn; Jansen, Anne J.; 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)
Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study
Vaughn, Cecily P.; Costa, J.L.; Feilotter, Harriet E.; Petraroli, Rosella; Bagai, Varun; Rachiglio, A.M.; Tops, B.B.; Ligtenberg, M.J.L. ; Nishio, Kazuto; Laurent-Puig, P.
2018, Article / Letter to editor (BMC Cancer, vol. 18, (2018), article 828)
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)
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
Weren, R.D.A.; Post, R.S. van der; Vogelaar, I.P.; Krieken, J.H.J.M. van ; Spruijt, L. ; Lubinski, J.; Jakubowska, A.; Teodorczyk, U.; Aalfs, C.M.; Hest, L.P. van; Oliveira, C. de; Kamping, E.J. ; Schackert, H.K.; Ranzani, G.N.; Garcia, E.B.; Hes, F.J.; Holinski-Feder, E.; Genuardi, M.; Ausems, M.G.E.M.; Sijmons, R.H.; Wagner, A.; Kolk, L.E. van der; Cats, A.; Bjornevoll, I.; Hoogerbrugge, N. ; Ligtenberg, M.J.L. et al. sine al.
2018, Article / Letter to editor (Journal of Medical Genetics, vol. 55, iss. 10, (2018), pp. 669-674)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

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