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4 results on '"Ligtenberg, MJ"'

2. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Antoniou, AC, Sinilnikova, OM, McGuffog, L, Healey, S, Nevanlinna, H, Heikkinen, T, Simard, J, Spurdle, AB, Beesley, J, Chen, XQ, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, XS, Fredericksen, Z, Peterlongo, P, Peissel, B, Bonanni, B, Viel, A, Bernard, L, Radice, P, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, PL, Rennert, G, Lejbkowicz, F, Andrulis, IL, Ozcelik, H, Glendon, G, Gerdes, AM, Thomassen, M, Sunde, L, Caligo, MA, Laitman, Y, Kontorovich, T, Cohen, S, Kaufman, B, Dagan, E, Baruch, RG, Friedman, E, Harbst, K, Barbany-Bustinza, G, Rantala, J, Ehrencrona, H, Karlsson, P, Domchek, SM, Nathanson, KL, Osorio, A, Blanco, I, Lasa, A, Benitez, J, Hamann, U, Hogervorst, FBL, Rookus, MA, Collee, JM, Devilee, P, Ligtenberg, MJ, van der Luijt, RB, Aalfs, CM, Waisfisz, Q, Wijnen, J, van Roozendaal, CEP, Peock, S, Cook, M, Frost, D, Oliver, C, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Davidson, R, Chu, C, Eccles, D, Cole, T, Hodgson, S, Godwin, AK, Stoppa-Lyonnet, D, Buecher, B, Leone, M, Bressac-de Paillerets, B, Remenieras, A, Caron, O, Lenoir, GM, Sevenet, N, Longy, M, Ferrer, SF, Prieur, F, Goldgar, D, Miron, A, John, EM, Buys, SS, Daly, MB, Hopper, JL, Terry, MB, Yassin, Y, Singer, C, Gschwantler-Kaulich, D, Staudigl, C, Hansen, TVO, Barkardottir, RB, Kirchhoff, T, Pal, P, Kosarin, K, Offit, K, Piedmonte, M, Rodriguez, GC, Wakeley, K, Boggess, JF, Basil, J, Schwartz, PE, Blank, SV, Toland, AE, Montagna, M, Casella, C, Imyanitov, EN, Allavena, A, Schmutzler, RK, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deissler, H, Fiebig, B, Suttner, C, Schonbuchner, I, Gadzicki, D, Caldes, T, de la Hoya, M, Pooley, KA, Easton, DF, and Chenevix-Trench, G

Abstract

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

Published
2009

4. Guideline on the requirements of external quality assessment programs in molecular pathology

Author

Elisabeth Dequeker, Silke Sterck, Hans Kreipe, Antonio Marchetti, Fiona H Blackhall, Marjolijn J L Ligtenberg, Outi Kämäräinen, Elke Boone, Zandra C. Deans, Miquel Taron, Ian A. Cree, Nicola Normanno, Sabine Tejpar, Frank J.M. Opdam, Albert G. Siebers, Etienne Rouleau, Peter M. van de Ven, Wim Timens, Anders Edsjö, Gerardo Botti, Fortunato Ciardiello, Patricia J. T. A. Groenen, Ilhan Celik, Simon Patton, Fátima Carneiro, Erik Thunnissen, Carmine Pinto, J. Han van Krieken, Ed Schuuring, Samuel S. Murray, Scott D. Patterson, Pathology, Epidemiology and Data Science, CCA - Oncogenesis, van Krieken, Jh, Normanno, N, Blackhall, F, Boone, E, Botti, G, Carneiro, F, Celik, I, Ciardiello, Fortunato, Cree, Ia, Deans, Zc, Edsjö, A, Groenen, Pj, Kamarainen, O, Kreipe, Hh, Ligtenberg, Mj, Marchetti, A, Murray, S, Opdam, Fj, Patterson, Sd, Patton, S, Pinto, C, Rouleau, E, Schuuring, E, Sterck, S, Taron, M, Tejpar, S, Timens, W, Thunnissen, E, van de Ven, Pm, Siebers, Ag, and Dequeker, E.

Subjects
Pathology, medicine.medical_specialty, Translational research Renal disorder [ONCOL 3], Quality Assurance, Health Care, Response to therapy, Guideline, Reference laboratory, ASSURANCE, Pathology and Forensic Medicine, Translational research [ONCOL 3], External quality assessment, Humans, Medicine, Medical physics, Pathology, Molecular, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Expert Testimony, Molecular Biology, Molecular pathology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Scope (project management), Clinical Laboratory Techniques, business.industry, Cell Biology, General Medicine, Translational research Tissue engineering and pathology [ONCOL 3], CANCER, Test (assessment), Oncology, TRIAL, Treatment decision making, business
Abstract

Contains fulltext : 118506.pdf (Publisher’s version ) (Closed access) Molecular pathology is an integral part of daily diagnostic pathology and used for classification of tumors, for prediction of prognosis and response to therapy, and to support treatment decisions. For these reasons, analyses in molecular pathology must be highly reliable and hence external quality assessment (EQA) programs are called for. Several EQA programs exist to which laboratories can subscribe, but they vary in scope, number of subscribers, and execution. The guideline presented in this paper has been developed with the purpose to harmonize EQA in molecular pathology. It presents recommendations on how an EQA program should be organized, provides criteria for a reference laboratory, proposes requirements for EQA test samples, and defines the number of samples needed for an EQA program. Furthermore, a system for scoring of the results is proposed as well as measures to be taken for poorly performing laboratories. Proposals are made regarding the content requirements of an EQA report and how its results should be communicated. Finally, the need for an EQA database and a participant manual are elaborated. It is the intention of this guideline to improve EQA for molecular pathology in order to provide more reliable molecular analyses as well as optimal information regarding patient selection for treatment.

Published
2012

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