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cancer mutation breast patient study breast cancer family variant analysis brca 1 tumor genetic tsc 1 carrier tuberin table university protein breast cancer risk department association genet disease allele expression control hamartin tuberous sclerosis group research deletion number result sclerosis netherland sample tuberou individual center hospital region susceptibility syndrome stage tsc 2 institute diagnosis figure centre women wild-type ratio change chromosome identi population tsc 2 variants germline signi function factor substitution model haplotype phosphorylation genotype status index brca 2 mutations level missense effect receptor von hippel-lindau disease tsc 2 gene signi ficantly identi fied genetics service children breast cancer cases
10 Most Recent Publications
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Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome
(Article)
Croonen, E.A. Yntema, H.G. Minkelen, R. van Ouweland, A.M.W. van den Burgt, I. van der |
2012-10-01
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Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours
(Article)
Kattentidt-Mouravieva, A.A. Geurts-Giele, I.R.R. Wagner, A. Krijger, R.R. de Noesel, M.M. van Ven, C.P. van de Ouweland, A.M.W. van den Kromosoeto, J.N.R. Dinjens, W.N.M. Dubbink, H.J. Smits, R. |
2012-08-01
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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations
(Article)
Leenen, C. Geurts-Giele, W. Wagner, A. Dubbink, H. Reddingius, R.E. Ouweland, A.M.W. van den Tops, C. Klift, H. van de Kuipers, E.J. Leerdam, M.E. van Dinjens, W. |
2011-12-01
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
(Article)
Cox, D.G. Simard, J. Szabo, C. Peterlongo, P. Manoukian, S. Bernard, L. Radice, P. Easton, D.F. Antoniou, A.C. Stoppa-Lyonnet, D. Mazoyer, S. Sinilnikova, O. Nordling, M. Greene, M.H. Bergman, A. Einbeigi, Z. Stenmark-Askmalm, M. Liedgren, S. Loman, N. Olsson, H. Kristoffersson, U. Soller, M. Jernström, H. Harbst, K. Mai, P.L. Henriksson, K. Lindblom, A. Arver, B. Wachenfeldt, A. von Liljegren, A. Barbany-Bustinza, G. Rantala, J. Melin, B. Grönberg, H. Stattin, E.-L. Andrulis, I.L. Emanuelsson, M. Ehrencrona, H. Brandell, R.R. Dahl, N. Hogervorst, F.B.L. Verhoef, S. Verheus, M. Leeuwen, F.E. van Collee, J.M. Jager, A. Glendon, G. Hooning, M. Tilanus-Linthorst, M.M.A. Seynaeve, C.M. Wijnen, J.T. Vreeswijk, M.P. Tollenaar, R.A.E.M. Ligtenberg, M. Hoogerbrugge, N. Luijt, R.B. van der Os, T.A.M. van Selander, T. Waisfisz, Q. Meijers-Heijboer, H. Gómez García, E.B. Roozendaal, C.E. van Blok, M.J. Caanen, B. Oosterwijk, J.C. Hout, A.H. van der Mourits, M.J. Vasen, H.F. Weerasooriya, N. Cook, J. Platte, R. Miedzybrodzka, Z. Gregory, H. Morrison, P.J. Jeffers, L. Cole, T.J. Ong, K.R. Hoffman, J. Donaldson, A. Thomassen, M. James, M. Downing, S. Taylor, A. Murray, A. Rogers, M.T. McCann, E. Kennedy, M.J. Barton, D. Porteous, M.E. Drummond, S. Gerdes, A-M. Brewer, C. Kivuva, E. Searle, A. Goodman, S. Hill, K. Davidson, R. Murday, V. Bradshaw, N. Snadden, L. Longmuir, M. Caligo, M.A. Watt, C. Gibson, S. Haque, E. Tobias, E. Duncan, A. Jacobs, C. Langman, C. Whaite, A. Dorkins, H. Barwell, J. Sinnett, D. Friedman, E. Chu, C. Miller, J. Ellis, I.O. Houghton, C. Lalloo, F. Side, L. Male, A. Berlin, C. Collier, R. Douglas, F. Laitman, Y. Claber, O. Jobson, I. Walker, L. McLeod, D. Halliday, D. Durell, S. Stayner, B. Shanley, S. Rahman, N. Houlston, R. Kaufman, B. Bancroft, E. D'Mello, L. Page, E. Ardern-Jones, A. Kohut, K. Wiggins, J. Castro, E. Mitra, A. Robertson, L. Quarrell, O. Paluch, S.S. Bardsley, C. Hodgson, S.V. Goff, S. Brice, G. Winchester, L. Eddy, C. Tripathi, V. Attard, V. Eccles, D. Lucassen, A. Borg, A. Crawford, G. McBride, D. Smalley, S. Léone, M. Buecher, B. Houdayer, C. Belotti, M. Tirapo, C. Pauw, A. de Bressac-de Paillerets, B. Karlsson, P. Remenieras, A. Byrde, V. Lenoir, G.M. Bignon, Y.-J. Uhrhammer, N. Bonadona, V. Bourdon, V. Noguchi, T. Coulet, F. Colas, C. Askmalm, M.S. Soubrier, F. Coupier, I. Pujol, P. Peyrat, J.-P. Fournier, J. Révillion, F. Vennin, P. Adenis, C. Ouweland, A.M.W. van den Rouleau, E. Bustinza, G.B. Lidereau, R. Demange, L. Nogues, C. Muller, D.W. Fricker, J.P. Longy, M. Sevenet, N. Toulas, C. Guimbaud, R. Gladieff, L. Nathanson, K.L. Feillel, V. Leroux, D. Dreyfus, H. Rebischung, C. Coron, F. Faivre, L. Prieur, F. Lebrun, M. Ferrer, S.F. Frenay, M. Domchek, S.M. Vénat-Bouvet, L. Asperen, C.J. van Veer, L.J. van 't Hamdi, Y. Rebbeck, T.R. Benitez, J. Hamann, U. Rookus, M.A. Ausems, M.G.E.M. Aalfs, C. Devilee, P. Gille, H.J.J.P. Peock, S. Frost, D. Soucy, P. Evans, D.G. Eeles, R. Izatt, L. Adlard, L. Paterson, J. Eason, J. Godwin, A.K. Remon, M.-A. Moncoutier, V. Gauthier-Villars, M. Ouimet, M. Lassett, C. Giraud, S. Hardouin, A. Berthet, P. Sobol, H. Eisinger, F. Paillerets, B.B. de Caron, O. Delnatte, C.D. Goldgar, D. Barjhoux, L. Miron, A. Ozcelik, H. Buys, S.S. Southey, M.C. Terry, M-B. Singer, C.F. Dressler, C. Tea, M.-K. Hansen, T.V.O. Johannsson, O.T. Verny-Pierre, C. Piedmonte, M. Rodriguez, G.C. Basil, J. Blank, S.V. Toland, A.E. Montagna, M. Isaacs, C. Blanco, I. Gayther, S.A. Moysich, K.B. McGuffog, L. Schmutzler, R.K. Wappenschmidt, B. Engel, C. Meindl, A. Ditsch, N. Arnold, N. Niederacher, D. Sutter, C. Gadzicki, D. Fiebig, B. Healey, S. Caldes, T. Laframboise, R. Nevanlinna, H. Chenevix-Trench, G. Beesley, J. Spurdle, A.B. Neuhausen, S.L. Ding, Y.C. Couch, F.J. Wang, X. |
2011-12-01
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
(Article)
Veghel-Plandsoen, M. van Wouters, C.H. Kromosoeto, J.N.R. Ridder-Klünnen, M.C. den Halley, D.J.J. Ouweland, A.M.W. van den |
2011-09-01
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Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis
(Article)
Lier, M.G.F. van Korsse, S.E. Mathus-Vliegen, E.M.H. Kuipers, E.J. Ouweland, A.M.W. van den Vanheusden, K. Leerdam, M.E. van Wagner, A. |
2011-08-10
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
(Article)
Antoniou, A.C. kartsonaki, C. Zaffaroni, D. Hopper, J. Daly, M. Terry, M-B. John, E.M. Buys, S.S. Yassin, Y. Miron, A. Goldgar, D. Singer, C.F. Tea, M.-K. Cattaneo, E. Pfeiler, G. Dressler, C. Hansen, T.V.O. Jønson, L. Ejlertsen, B. Barkardottir, R.B. Kirchhoff, T. Offit, K. Piedmonte, M. Rodriguez, G.C. Barile, M. Small, L. Boggess, J.F. Blank, S.V. Basil, J. Azodi, M. Toland, A.E. Montagna, M. Tognazzo, S. Agata, S. Imyanitov, E.N. Pensotti, V. Janavicius, R. Lazaro, C. Blanco, I. Pharoah, P.D.P. Sucheston, L. Karlan, B.Y. Walsh, C.S. Olah, E. Bozsik, A. Teo, S.-H. Pasini, B. Seldon, J.L. Beattie, M.S. Rensburg, E.J. van Sluiter, M.D. Diez, O. Schmutzler, R.K. Wappenschmidt, B. Engel, C. Meindl, A. Ruehl, I. Dolcetti, R. Varon-Mateeva, R. Kast, K. Deissler, H. Niederacher, D. Arnold, N. Gadzicki, D. Schönbuchner, I. Caldes, T. Hoya, M. de La Nevanlinna, H. Giannini, G. Aittomäki, K. Dumont, M. Chiquette, J. Tischkowitz, M. Chenevix-Trench, G. Beesley, J. Spurdle, A.B. Neuhausen, S.L. Ding, Y.C. Fredericksen, Z. Putignano, A.L. Wang, X. Pankratz, V.S. Couch, F.J. Simard, J. Easton, D.F. Chenevix-Trench, G. Karlsson, P. Nordling, M. Bergman, A. Einbeigi, Z. Varesco, L. Stenmark-Askmalm, M. Liedgren, S. Borg, A. Olsson, H. Kristoffersson, U. Jernström, H. Henriksson, K. Wachenfeldt, A. von Liljegren, A. Barbany-Bustinza, G. Radice, P. Rantala, J. Grönberg, H. Stattin, E.-L. Emanuelsson, M. Brandell, R.R. Dahl, N. Verhoef, S. Verheus, M. Veer, L.v. Leeuwen, F.E. van Sinilnikova, O. Mai, P.L. Collee, J.M. Ouweland, A.M.W. van den Jager, A. Tilanus-Linthorst, M.M.A. Seynaeve, C.M. Wijnen, J.T. Vreeswijk, M.P. Tollenaar, R.A.E.M. Ligtenberg, M. Hoogerbrugge, N. Greene, M.H. Ausems, M.G.E.M. Aalfs, C. Gille, J.J.P. Waisfisz, Q. Gómez García, E.B. Roozendaal, C.E. van Blok, M.J. Caanen, B. Oosterwijk, J.C. Hout, A.H. van der Andrulis, I.L. Mourits, M.J. Vasen, H.F. Gregory, H. Morrison, P.J. Jeffers, L. Cole, T.J. McKeown, C. Hoffman, J. Donaldson, A. Downing, S. Glendon, G. Taylor, A. Murray, A. Rogers, M.T. McCann, E. Porteous, M.E. Drummond, S. Brewer, C. Kivuva, E. Searle, A. Goodman, S. Ozcelik, H. Hill, K. Murday, V. Bradshaw, N. Snadden, L. Longmuir, M. Watt, C. Gibson, S. Haque, E. Tobias, E. Duncan, A. Thomassen, M. Jacobs, C. Langman, C. Whaite, A. Dorkins, H. Barwell, J. Chu, C. Miller, J. Ellis, I.O. Houghton, C. Side, L. Gerdes, A-M. Male, A. Berlin, C. Eason, J. Collier, R. Claber, O. Jobson, I. Walker, L. McLeod, D. Halliday, D. Durell, S. Kruse, T.A. Stayner, B. Shanley, S. Rahman, N. Houlston, R. Bancroft, E. D'Mello, L. Page, E. Ardern-Jones, A. Kohut, K. Wiggins, J. Jensen, U.B. Castro, E. Mitra, A. Robertson, L. Quarrell, O. Bardsley, C. Hodgson, S.V. Barton, D.E. Goff, S. Brice, G. Winchester, L. Cruger, D. Eddy, C. Tripathi, V. Attard, V. Lucassen, A. Crawford, G. McBride, D. Smalley, S. Adlard, J.W. Arver, B. Soucy, P. Caligo, M.A. Laitman, Y. Milgrom, R. Kaufman, B. Paluch-Shimon, S. Friedman, E. Loman, N. Harbst, K. Lindblom, A. Ehrencrona, H. McGuffog, L. Melin, B. Nathanson, K.L. Domchek, S.M. Rebbeck, T.R. Jakubowska, A. Lubinski, J. Gronwald, J. Huzarski, T. Byrski, T. Cybulski, C. Healey, S. Górski, B. Osorio, A. Cajal, T.R. Fostira, F. Andres, R. Benitez, J. Hamann, U. Hogervorst, F.B.L. Rookus, M.A. Hooning, M. Lee, A. Nelen, M.R. Luijt, R.B. van der Os, T.A.M. van Asperen, C.J. van Devilee, P. Meijers-Heijboer, H. Garcia, E.B.G. Peock, S. Cook, M. Frost, D. Peterlongo, P. Platte, R. Leyland, J. Evans, D.G. Lalloo, F. Eeles, R. Izatt, L. Davidson, R. Eccles, D. Ong, K.-R. Douglas, F. Manoukian, S. Paterson, J. Kennedy, M.J. Miedzybrodzka, Z. Godwin, A.K. Stoppa-Lyonnet, D. Buecher, B. Belotti, M. Tirapo, C. Mazoyer, S. Barjhoux, L. Peissel, B. Lassett, C. Leroux, D. Faivre, L. Bronner, M. Prieur, F. Nogues, C. Rouleau, E. Pujol, P. Coupier, I. Frenay, M. |
2011-08-01
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Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families
(Article)
Hollestelle, A. Pelletier, C. Aulchenko, Y.S. Martens, J.W.M. Ouweland, A.M.W. van den Weidhaas, J. Hooning, M. Crepin, E. Schutte, A.E.M. Look, M.P. Collée, J.M. Nieuwlaat, A. Dorssers, L.C.J. Seynaeve, C.M. |
2011-07-01
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Compliance with periodic surveillance for Von-Hippel-Lindau disease
(Article)
Lammens, C.R.M. Aaronson, N.K. Luijt, R.B. van der Ouweland, A.M.W. van den Hest, L.P. van Verhoef, S. Bleiker, E.M.A. Hes, F.J. Links, T.P. Zonnenberg, B.A. Lenders, J.W.M. Majoor-Krakauer, D.F. Os, T.A.M. van Gómez García, E.B. Herder, W.W. de |
2011-06-01
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Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes
(Article)
Lammens, C.R.M. Bleiker, E.M.A. Luijt, R.B. van der Ouweland, A.M.W. van den Ruijs, M.W.G. Gundy, C. Nagtegaal, T. Aaronson, N.K. Verhoef, S. Ausems, M.G.E.M. Majoor-Krakauer, D.F. Sijmons, R.H. Hes, F.J. Gómez García, E.B. Os, T.A.M. van Spruijt, L. |
2011-06-01
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