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mutation cancer breast cancer brca 1 brca 2 mutations family breast chek 2*1100delc patient analysis individual 2*1100delc identi fied deletion control identi variant ratio probe chek 2 sequence fication 1.5 cylindromatosi 0.5 2.5 unclassi fied variant genetic netherland frequency index patient rearrangement genet duplication syndrome index result allele mosaic product figure breast cancer risk chromosome brooke-spiegler syndrome identi fication table carrier brca 2 mosaicism tuberous sclerosis sample exon 20 trichoepithelioma breast cancer unselected nature research susceptibility unclassi speci father group marker breakpoint tsc 2 linkage parent sensitivity sequence analysis brooke-spiegler protein 1100 delc mutation duplication-speci fic pcr breast cancer susceptibility study change chek 2*1100delc variant detection van den ouweland population primer speci fic
3 Most Recent Publications
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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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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
(Article)
Ouweland, A.M.W. van den Elfferich, P. Lamping, R. Graaf, R. van de Veghel-Plandsoen, M. van Franken, S.M. Houweling, A.C. |
2011-03-01
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Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
(Article)
Meijers-Heijboer, E.J. Snoo, A. de Schutte, M. McGuffog, L. Thompson, D. Easton, D.F. Sodha, N. Seal, S. Barfoot, R. Mangion, J. Chang-Claude, J. Eccles, D. Oldenburg, R. Eeles, R. Evans, D.G. Houlston, R. Murday, V. Narod, S. Peretz, T. Peto, J. Phelan, C. Zhang, H.X. Szabo, C. Hollestelle, A. Devilee, P. Goldgar, D. Futreal, P.A. Nathanson, K.L. Weber, B.L. Rahman, N. Stratton, M.R. Ouweland, A.M.W. van den Klijn, J.G.M. Wasielewski, M. Houben, M. Elstrodt, F. Crepin, E. Veghel-Plandsoen, M. van Duijn, C.M. van Bartels, C.C.M. Meijers, C. |
2002-05-01
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