dr. J.C. Oosterwijk

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E-mail:
j.c.oosterwijk umcg.nl

Research

  1. 2020
  2. Reumkens, K., Tummers, M. H. E., Severijns, Y., Gietel-Habets, J. J. G., van Kuijk, S. M. J., Aalfs, C. M., van Asperen, C. J., Ausems, M. G. E. M., Collee, M., Dommering, C. J., Kets, M., van der Kolk, L. E., Oosterwijk, J. C., Tjan-Heijnen, V. C. G., van der Weijden, T., de Die-Smulders, C. E. M., & van Osch, L. A. D. M. (2020). Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making. Journal of community genetics. https://doi.org/10.1007/s12687-020-00484-2
  3. Familial MRI Screening (FaMRIsc) Study group, Geuzinge, H. A., Obdeijn, I-M., Rutgers, E. J. T., Saadatmand, S., Mann, R. M., Oosterwijk, J. C., Tollenaar, R. A. E. M., de Roy van Zuidewijn, D. B. W., Lobbes, M. B. I., van 't Riet, M., Hooning, M. J., Ausems, M. G. E. M., Loo, C. E., Wesseling, J., Luiten, E. J. T., Zonderland, H. M., Verhoef, C., Heijnsdijk, E. A. M., ... de Koning, H. J. (2020). Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk. JAMA oncology, 6(9), 1381-1389. https://doi.org/10.1001/jamaoncol.2020.2922
  4. Bouwman, P., van der Heijden, I., van der Gulden, H., de Bruijn, R., Braspenning, M. E., Moghadasi, S., Wessels, L. F. A., Segers, K., Badoer, C., Vandernoot, I., Hilbert, P., Storm, K., Blaumeiser, B., Claes, K. B. M., Seneca, S., Michils, G., van den Ouweland, A., Collée, J. M., van der Stoep, N., ... Jonkers, J. (2020). Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays. Clinical Cancer Research. https://doi.org/10.1158/1078-0432.CCR-20-0255
  5. Overbeek, K. A., Rodríguez-Girondo, M. D., Wagner, A., van der Stoep, N., van den Akker, P. C., Oosterwijk, J. C., van Os, T. A., van der Kolk, L. E., Vasen, H. F. A., Hes, F. J., Cahen, D. L., Bruno, M. J., & Potjer, T. P. (2020). Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants. JOURNAL OF MEDICAL GENETICS. https://doi.org/10.1136/jmedgenet-2019-106562
  6. Van de Beek, P., Smets, E. M. A., Legdeur, M. A., de Hullu, J. A., Lok, C. A. R., Buist, M. R., Mourits, M. J. E., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., & Aalfs, C. M. (2020). Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing. Journal of community genetics, 11(2), 183-191. https://doi.org/10.1007/s12687-019-00427-6
  7. Tilanus-Linthorst, M. M. A., Geuzinge, H. A., Obdeijn, I-M. M., Rutgers, E. J. T., Mann, R. M., Saadatmand, S., van Zuidewijn, D. B. W. D. R., Tollenaar, R. A. E. M., Lobbes, M. B. I., Ausems, M. G. E. M., van't Riet, M., Hooning, M. J., Wesseling, J., Mares-Engelberts, I., Luiten, E. J. T., Oosterwijk, J. C., Heijnsdijk, E. A. M., & de Koning, H. J. (2020). Costs and effects in the first randomized trial comparing MRI breast cancer screening with mammography in women with a familial risk: FaMRIsc. Cancer Research, 80(4). https://doi.org/10.1158/1538-7445.SABCS19-GS4-07
  8. GENEPSO, EMBRACE, HEBON, kConFab Investigators, IBCCS, kConFab, BCFR, Mavaddat, N., Antoniou, A. C., Mooij, T. M., Hooning, M. J., Heemskerk-Gerritsen, B. A., Nogues, C., & Gauthier-Villars, M. (2020). Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast cancer research, 22(1), [8]. https://doi.org/10.1186/s13058-020-1247-4
  9. GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, & ABCTB Investigators (2020). Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics, 52(1), 56-73. https://doi.org/10.1038/s41588-019-0537-1
  10. 2019
  11. HEBON Grp, de Jonge, M. M., Ritterhouse, L. L., de Kroon, C. D., Vreeswijk, M. P. G., Segal, J. P., & Puranik, R. (2019). Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity. Clinical Cancer Research, 25(24), 7517-7526. https://doi.org/10.1158/1078-0432.CCR-19-0848
  12. IMPACT Study Collaborators, Page, E. C., Bancroft, E. K., Brook, M. N., Assel, M., Hassan Al Battat, M., Thomas, S., Taylor, N., Chamberlain, A., Pope, J., Raghallaigh, H. N., Evans, D. G., Rothwell, J., Maehle, L., Grindedal, E. M., James, P., Mascarenhas, L., McKinley, J., Side, L., ... Cardoso, M. (2019). Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. European Urology, 76(6), 831-842. https://doi.org/10.1016/j.eururo.2019.08.019
  13. Lakeman, I. M. M., Hilbers, F. S., Rodríguez-Girondo, M., Lee, A., Vreeswijk, M. P. G., Hollestelle, A., Seynaeve, C., Meijers-Heijboer, H., Oosterwijk, J. C., Hoogerbrugge, N., Olah, E., Vasen, H. F. A., van Asperen, C. J., & Devilee, P. (2019). Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families. JOURNAL OF MEDICAL GENETICS, 56(9), 581-589. https://doi.org/10.1136/jmedgenet-2019-106072
  14. FaMRIsc Study Grp, Saadatmand, S., Geuzinge, H. A., Rutgers, E. J. T., Mann, R. M., van Zuidewijn, D. B. W. D. R., Zonderland, H. M., Tollenaar, R. A. E. M., Lobbes, M. B., Ausems, M. G. E. M., van t'Riet, M., Hooning, M. J., Mares-Engelberts, I., Luiten, E. J. T., Heijnsdijk, E. A. M., Verhoef, C., Karssemeijer, N., Oosterwijk, J. C., Obdeijn, I-M., ... Tilanus-Linthorst, M. M. A. (2019). MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial. Lancet Oncology, 20(8), 1136-1147. https://doi.org/10.1016/S1470-2045(19)30275-X
  15. Postema, F. A. M., Bliek, J., van Noesel, C. J. M., van Zutven, L. J. C. M., Oosterwijk, J. C., Hopman, S. M. J., Merks, J. H. M., & Hennekam, R. C. (2019). Multiple tumors due to mosaic genome-wide paternal uniparental disomy. Pediatric blood & cancer, 66(6), [27715]. https://doi.org/10.1002/pbc.27715
  16. Reumkens, K., Tummers, M. H. E., Gietel-Habets, J. J. G., van Kuijk, S. M. J., Aalfs, C. M., van Asperen, C. J., Ausems, M. G. E. M., Collée, M., Dommering, C. J., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., Tjan-Heijnen, V. C. G., van der Weijden, T., de Die-Smulders, C. E. M., & van Osch, L. A. D. M. (2019). Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making. Journal of genetic counseling, 28(3), 533-542. https://doi.org/10.1002/jgc4.1056
  17. GEMO Study Collaborators, Qian, F., Wang, S., Mitchell, J., McGuffog, L., Barrowdale, D., Leslie, G., Oosterwijk, J. C., Chung, W. K., Evans, D. G., Engel, C., Kast, K., Aalfs, C. M., Adank, M. A., Adlard, J., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., ... Friedman, E. (2019). Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. JOURNAL OF THE NATIONAL CANCER INSTITUTE, 111(4), 350-364. [132]. https://doi.org/10.1093/jnci/djy132
  18. Reumkens, K., Tummers, M. H. E., Gietel-Habets, J. J. G., van Kuijk, S. M. J., Aalfs, C. M., van Asperen, C. J., Ausems, M. G. E. M., Collee, M., Dommering, C. J., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., Tjan-Heijnen, V. C. G., van der Weijden, T., de Die-Smulders, C. E. M., & van Osch, L. A. D. M. (2019). The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study. Familial Cancer, 18(1), 137-146. https://doi.org/10.1007/s10689-018-0092-4
  19. Ausems, M. G. E. M., Oosterwijk, J. C., Nielsen, M., Lolkema, M. P., Hoogerbrugge, N., & Ligtenberg, M. J. L. (2019). Genetisch onderzoek bij patiënten met kanker. Nederlands Tijdschrift voor Geneeskunde, 163. http://Genetisch onderzoek bij patiënten met kanker
  20. 2018
  21. EMBRACE, GENEPSO, BCFR, HEBON, kConFab and IBCCS, Terry, M. B., Liao, Y., Kast, K., Antoniou, A. C., McDonald, J. A., Mooij, T. M., Engel, C., Nogues, C., Buecher, B., Mari, V., Moretta-Serra, J., Gladieff, L., Luporsi, E., Barrowdale, D., Frost, D., Henderson, A., Brewer, C., Evans, D. G., ... van Leeuwen, F. E. (2018). The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations. JNCI cancer spectrum, 2(4). https://doi.org/10.1093/jncics/pky078
  22. EMBRACE, GENEPSO, BCFR, HEBON, kConFab, IBCCS, Schrijver, L. H., Olsson, H., Phillips, K-A., Terry, M. B., Goldgar, D. E., Kast, K., Engel, C., Mooij, T. M., Adlard, J., Barrowdale, D., Davidson, R., Eeles, R., Ellis, S., ... van Leeuwen, F. E. (2018). Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. JNCI cancer spectrum, 2(2), [pky023]. https://doi.org/10.1093/jncics/pky023
  23. Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, A., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, T. V. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., ... Garcia, E. G. (2018). The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. JOURNAL OF MEDICAL GENETICS, 55(1), 15-20. https://doi.org/10.1136/jmedgenet-2017-104560
  24. Moghadasi, S., Grundeken, V., Janssen, L. A. M., Dijkstra, N. H., Rodriguez-Girondo, M., van Zelst-Stams, W. A. G., Oosterwijk, J. C., Ausems, M. G. E. M., Oldenburg, R. A., Adank, M. A., Blom, E. W., Ruijs, M. W. G., van Os, T. A. M., van Deurzen, C. H. M., Martens, J. W. M., Schröder, C. P., Wijnen, J. T., Vreeswijk, M. P. G., & van Asperen, C. J. (2018). Performance of BRCA1/2 mutation prediction models in male breast cancer patients. Clinical Genetics, 93(1), 52-59. https://doi.org/10.1111/cge.13065
  25. Mikropoulos, C., Selkirk, C. G. H., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D. G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P. J., van Asperen, C. J., Vasen, H., ... IMPACT Study Collaborators (2018). Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. British Jounal of Cancer, 118(2), 266-276. https://doi.org/10.1038/bjc.2017.429
  26. IMPACT Study Collaborators, Mikropoulos, C., Hutten Selkirk, C. G., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D. G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P. J., van Asperen, C. J., ... Ruijs, M. (2018). Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. British Journal of Cancer, 118(6), e17. https://doi.org/10.1038/bjc.2018.11
  27. 2017
  28. van der Tuin, K., Tops, C. M. J., Adank, M. A., Cobben, J-M., Hamdy, N. A. T., Jongmans, M. C., Menko, F. H., van Nesselrooij, B. P. M., Netea-Maier, R. T., Oosterwijk, J. C., Valk, G. D., Wolffenbuttel, B. H. R., Hes, F. J., & Morreau, H. (2017). CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. https://doi.org/10.1210/jc.2017-01249
  29. Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindstrom, S., Hui, S., Lemacon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., ... NBSC Collaborators (2017). Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics, 49(12), 1767-1778. https://doi.org/10.1038/ng.3785
  30. Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Lee, A., Soucy, P., Dennis, J., Domchek, S. M., Robson, M., Spurdle, A. B., Ramus, S. J., Mavaddat, N., Terry, M. B., Neuhausen, S. L., Schmutzler, R. K., Simard, J., Pharoah, P. D. P., Offit, K., Couch, F. J., Chenevix-Trench, G., ... Oosterwijk, J. (2017). Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. Jnci-Journal of the national cancer institute, 109(7), [302]. https://doi.org/10.1093/jnci/djw302
  31. Shimelis, H., Mesman, R. L. S., Von Nicolai, C., Ehlen, A., Guidugli, L., Martin, C., Calleja, F. M. G. R., Meeks, H., Hallberg, E., Hinton, J., Lilyquist, J., Hu, C., Aalfs, C. M., Aittomaki, K., Andrulis, I., Anton-Culver, H., Arndt, V., Beckmann, M. W., Benitez, J., ... NBCS Collaborators (2017). BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. Cancer Research, 77(11), 2789-2799. https://doi.org/10.1158/0008-5472.CAN-16-2568
  32. Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemacon, A., Adlard, J., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Azzollini, J., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., ... kConFab Investigators (2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: Identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Research and Treatment, 161(1), 117-134. https://doi.org/10.1007/s10549-016-4018-2
  33. 2016
  34. Rebbeck, T. R., Friebel, T. M., Mitra, N., Wan, F., Chen, S., Andrulis, I. L., Apostolou, P., Arnold, N., Arun, B. K., Barrowdale, D., Benitez, J., Berger, R., Berthet, P., Borg, A., Buys, S. S., Caldes, T., Carter, J., Chiquette, J., Claes, K. B. M., ... kConFab Investigators (2016). Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast cancer research, 18(112), [112]. https://doi.org/10.1186/s13058-016-0768-3
  35. van Tilborg, T. C., Derks-Smeets, I. A. P., Bos, A. M. E., Oosterwijk, J. C., van Golde, R. J., de Die-Smulders, C. E., van der Kolk, L. E., van Zelst-Stams, W. A. G., Velthuizen, M. E., Hoek, A., Eijkemans, M. J. C., Laven, J. S. E., Ausems, M. G. E. M., & Broekmans, F. J. M. (2016). Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced? Human Reproduction, 31(11), 2651-2659. https://doi.org/10.1093/humrep/dew242
  36. Vos, J. R., Oosterwijk, J. C., Aalfs, C. M., Rookus, M. A., Adank, M. A., van der Hout, A. H., van Asperen, C. J., Garcia, E. B. G., Mensenkamp, A. R., Jager, A., Ausems, M. G. E. M., Mourits, M. J., de Bock, G. H., & Hereditary Breast Ovarian Canc Res (2016). Bias explains most of the parent-of-origin effect on breast cancer risk in BRCA1/2 mutation carriers. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 25(8), 1251-1258. https://doi.org/10.1158/1055-9965.EPI-16-0182
  37. van Tilborg, T. C., Broekmans, F. J., Pijpe, A., Schrijver, L. H., Mooij, T. M., Oosterwijk, J. C., Verhoef, S., Garcia, E. B. G., van Zelst-Stams, W. A., Adank, M. A., van Asperen, C. J., van Doorn, H. C., van Os, T. A., Bos, A. M., Rookus, M. A., & Ausems, M. G. (2016). Do BRCA1/2 mutation carriers have an earlier onset of natural menopause? Menopause-the Journal of the North American Menopause Society, 23(8), 903-910. https://doi.org/10.1097/GME.0000000000000633
  38. Sigl, V., Owusu-Boaitey, K., Joshi, P. A., Kavirayani, A., Wirnsberger, G., Novatchkova, M., Kozieradzki, I., Schramek, D., Edokobi, N., Hersl, J., Sampson, A., Odai-Afotey, A., Lazaro, C., Gonzalez-Suarez, E., Pujana, M. A., Heyn, H., Vidal, E., Cruickshank, J., Berman, H., ... CIMBA (2016). RANKL/RANK control Brca1 mutation-driven mammary tumors. Cell research, 26(7), 761-774. https://doi.org/10.1038/cr.2016.69
  39. Zeng, C., Guo, X., Long, J., Kuchenbaecker, K. B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J. L., Milne, R. L., Bolla, M. K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I. L., Anton-Culver, H., ... AOCS Investigators (2016). Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast cancer research, 18(64). https://doi.org/10.1186/s13058-016-0718-0
  40. Hollestelle, A., van der Baan, F. H., Berchuck, A., Johnatty, S. E., Aben, K. K., Agnarsson, B. A., Aittomaki, K., Alducci, E., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Apicella, C., Arndt, V., Arnold, N., Arun, B. K., Arver, B., Ashworth, A., Baglietto, L., ... SWE-BRCA (2016). No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology, 141(2), 386-401. https://doi.org/10.1016/j.ygyno.2015.04.034
  41. Dunning, A. M., Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., Healey, C. S., Kar, S., Pooley, K. A., Lopez-Knowles, E., Dicks, E., Barrowdale, D., Sinnott-Armstrong, N. A., Sallari, R. C., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Marjaneh, M. M., Lee, J. S., ... kConFab Investigators (2016). Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics, 48(4), 374-+. https://doi.org/10.1038/ng.3521
  42. Meeks, H. D., Song, H., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Barrowdale, D., Frost, D., McGuffog, L., Ellis, S., Feng, B., Buys, S. S., Hopper, J. L., Southey, M. C., Tesoriero, A., James, P. A., Bruinsma, F., Campbell, I. G., Broeks, A., ... PRostate Canc Assoc Grp (2016). BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Jnci-Journal of the national cancer institute, 108(2), [315]. https://doi.org/10.1093/jnci/djv315
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