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scopus: 6701548571

Tops, C.

(Carli Tops)


cancer mutation family colorectal colorectal cancer hnpcc patient carrier pms 2 breast analysis tumor sequence nonpolyposis colorectal cancer breast cancer table variant allele testing pms 2cl msh 6 germline mutyh study colorectal cancer cases netherland genet department syndrome cohort carcinoma phenotype msh 6 mutation subject crc risk microsatellite instability result sequence transfer microsatellite genetic genotype rt-pcr region instability university transfer susceptibility 165cy non-polyposis colorectal cancer tumours nonpolyposi risk subjects mismatch polyposi sample mlh 1 repair deletion criteria dutch genomic individual tumour expression endometrial cancer detection colon erasmus mc university primers endometrial figure primer identi fied class amplicon genomic dna polyps msh 2 tyr 165cys colorectal cancer risk




8 Most Recent Publications

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients (Article)
Klift, H.M. van der Tops, C. Izatt, L. Hest, L.P. Alonso, A.M. Vriends, A.H.J.T. Wagner, A. Zelst-Stams, W.A. van Vasen, H. Morreau, H. Devilee, P. Wijnen, J.T. Bik, E.C. Boogaard, M.W. Borgstein, A.M. Hansson, K.B. Ausems, M.G.E.M. Garcia, E.G. Green, A. Hes, F.J.
2010-05-01
Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome (Article)
Wijnen, J.T. Brohet, R.M. Hoogerbrugge, N. Menko, F. Os, T.A.M. van Sijmons, R.H. Verhoef, S. Wagner, A. Nagengast, F.M. Kleibeuker, J.H. Devilee, P. Morreau, H. Eijk, R. van Goldgar, D. Tomlinson, I.P. Houlston, R. Wezel, T. van Vasen, H. Jagmohan-Changur, S. Middeldorp, A. Tops, C. Puijenbroek, M. van Ausems, M.G.E.M. Gómez García, E.B. Hes, F.J.
2009-01-01
CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer (Article)
Wasielewski, M. Vasen, H. Wijnen, J. Hooning, M. Dooijes, D. Tops, C. Klijn, J.G.M. Meijers-Heijboer, E.J. Schutte, M.
2008-08-01
The use of genetic testing in hereditary colorectal cancer syndromes: Genetic testing in HNPCC, (A)FAP and MAP (Article)
Ramsoekh, D. Leerdam, M.E. van Tops, C. Dooijes, D. Steyerberg, E.W. Kuipers, E.J. Wagner, A.
2007-12-01
Biallelic germline mutations of mismatch-repair genes: A possible cause for multiple pediatric malignancies (Article)
Poley, J.W. Wagner, A. Hoogmans, M.M.C.P. Menko, F. Tops, C. Kros, J.M. Reddingius, R.E. Meijers-Heijboer, E.J. Kuipers, E.J. Dinjens, W.N.M.
2007-06-01
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family (Article)
Puijenbroek, M. van Nielsen, M. Hes, F.J. Morreau, H. Reinards, T.H.C.M. Weiss, M.M. Wagner, A. Hendriks, Y. Vasen, H. Tops, C. Wijnen, J.T. Wezel, T. van
2007-03-01
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype (Article)
Meijers-Heijboer, E.J. Moslein, G. Bos, R.R. van den Snoo, A. de Schutte, A.E.M. Franken, P.F. Fat, G.T. Jagmohan, S. Chapman, P. Brekelmans, C.T. Wijnen, J. Vasen, H. Lynch, H. Ouweland, A.M.W. van den Klijn, J.G.M. Hollestelle, A. Wasielewski, M. Fodde, R. Wagner, A. Elstrodt, F. Verkuijlen, P. Tops, C. Burn, J.
2003-01-01
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree (Article)
Wagner, A. Krimpen, C. van Breuning, M.H. Meer, C. van der Vasen, H.F. Niermeijer, M.F. Lindhout, D. Hendriks, Y. Meijers-Heijboer, E.J. Wijnen, J. Leeuw, W.J. de Morreau, H. Hofstra, R. Tops, C. Cornelisse, C.J. Zwinderman, A.H. Bik, E. Brocker-Vriends, A.H. Fodde, R.
2001-01-01