Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Published in Nature genetics (01.11.2014)
Published in Nature genetics (01.11.2014)
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A scoping review of practice recommendations for clinicians’ communication of uncertainty
Medendorp, Niki M., Stiggelbout, Anne M., Aalfs, Cora M., Han, Paul K. J., Smets, Ellen M. A., Hillen, Marij A.
Published in Health expectations : an international journal of public participation in health care and health policy (01.08.2021)
Published in Health expectations : an international journal of public participation in health care and health policy (01.08.2021)
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Germline Mutations in Predisposition Genes in Pediatric Cancer
Bardai, Abdenasser, Overwater, Eline, Aalfs, Cora M
Published in The New England journal of medicine (07.04.2016)
Published in The New England journal of medicine (07.04.2016)
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Germline Mutations in Predisposition Genes in Pediatric Cancer
Bardai, Abdenasser, Overwater, Eline, Aalfs, Cora M, Zhang, Jinghui, Nichols, Kim E, Downing, James R
Published in The New England journal of medicine (07.04.2016)
Published in The New England journal of medicine (07.04.2016)
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ASO Visual Abstract: Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling
Bokkers, Kyra, Bleiker, Eveline M. A., Aalfs, Cora M., van Dalen, Thijs, Velthuizen, Mary E., Duijveman, Petra, Sijmons, Rolf H., Koole, Wouter, Schoenmaeckers, Ernst J. P., Ausems, Margreet G. E. M.
Published in Annals of surgical oncology (01.06.2023)
Published in Annals of surgical oncology (01.06.2023)
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Kempers, Marlies JE, MD, Kuiper, Roland P, PhD, Ockeloen, Charlotte W, MD, Chappuis, Pierre O, MD, Hutter, Pierre, PhD, Rahner, Nils, MD, Schackert, Hans K, Prof, Steinke, Verena, MD, Holinski-Feder, Elke, Prof, Morak, Monika, PhD, Kloor, Matthias, MD, Büttner, Reinhard, MD, Verwiel, Eugene TP, BSc, van Krieken, J Han, Prof, Nagtegaal, Iris D, MD, Goossens, Monique, BSc, van der Post, Rachel S, MD, Niessen, Renée C, PhD, Sijmons, Rolf H, MD, Kluijt, Irma, MD, Hogervorst, Frans BL, PhD, Leter, Edward M, MD, Gille, Johan JP, PhD, Aalfs, Cora M, MD, Redeker, Egbert JW, PhD, Hes, Frederik J, MD, Tops, Carli MJ, PhD, van Nesselrooij, Bernadette PM, MD, van Gijn, Marielle E, PhD, García, Encarna B Gómez, MD, Eccles, Diana M, Prof, Bunyan, David J, PhD, Syngal, Sapna, MD, Stoffel, Elena M, MD, Culver, Julie O, MSc, Palomares, Melanie R, MD, Graham, Tracy, MSc, Velsher, Lea, MD, Papp, Janos, PhD, Oláh, Edith, Prof, Chan, Tsun L, PhD, Leung, Suet Y, Prof, van Kessel, Ad Geurts, Prof, Kiemeney, Lambertus ALM, Prof, Hoogerbrugge, Nicoline, Prof, Ligtenberg, Marjolijn JL, Dr
Published in The lancet oncology (2011)
Published in The lancet oncology (2011)
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Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
Weren, Robbert D A, van der Post, Rachel S, Vogelaar, Ingrid P, van Krieken, J Han, Spruijt, Liesbeth, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Oliveira, Carla, Kamping, Eveline J, Schackert, Hans K, Ranzani, Guglielmina N, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Cats, Annemieke, Bjørnevoll, Inga, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L
Published in Journal of medical genetics (01.10.2018)
Published in Journal of medical genetics (01.10.2018)
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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Ruijs, Marielle W G, Verhoef, Senno, Rookus, Matti A, Pruntel, Roelof, van der Hout, Annemarie H, Hogervorst, Frans B L, Kluijt, I, Sijmons, Rolf H, Aalfs, Cora M, Wagner, Anja, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gomez Garcia, Encarna B, Meijers-Heijboer, Hanne, ten Kate, Leo P, Menko, Fred H, van 't Veer, Laura J
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Addition of an online, validated family history questionnaire to the Dutch FIT-based screening programme did not improve its diagnostic yield
Roos, Victorine H., Kallenberg, Frank G. J., van der Vlugt, Manon, Bongers, Evelien J. C., Aalfs, Cora M., Bossuyt, Patrick M. M., Dekker, Evelien
Published in British journal of cancer (09.06.2020)
Published in British journal of cancer (09.06.2020)
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A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?
Medendorp, Niki M, Hillen, Marij A, Visser, Leonie N C, Aalfs, Cora M, Duijkers, Floor A M, van Engelen, Klaartje, Ausems, Margreet G E M, Verhoef, Senno, Stiggelbout, Anne M, Smets, Ellen M A
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
Vogelaar, Ingrid P, van der Post, Rachel S, van Krieken, J Han Jm, Spruijt, Liesbeth, van Zelst-Stams, Wendy Ag, Kets, C Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, de Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Goeman, Jelle J, Schackert, Hans K, Ranzani, Guglielmina N, Molinaro, Valeria, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Bjørnevoll, Inga, Høberg-Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline
Published in European journal of human genetics : EJHG (01.11.2017)
Published in European journal of human genetics : EJHG (01.11.2017)
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Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia
Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, van der Luijt, Rob B, Aalfs, Cora M, Sane, Timo, Vierimaa, Outi, Mäkinen, Markus J, Tuppurainen, Karoliina, Paschke, Ralph, Gimm, Oliver, Koch, Christian A, Gündogdu, Sadi, Lucassen, Anneke, Tischkowitz, Marc, Izatt, Louise, Aylwin, Simon, Bano, Gul, Hodgson, Shirley, De Menis, Ernesto, Launonen, Virpi, Vahteristo, Pia, Aaltonen, Lauri A
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations
Medendorp, Niki M., Hillen, Marij A., van Maarschalkerweerd, Pomme E. A., Aalfs, Cora M., Ausems, Margreet G. E. M., Verhoef, Senno, van der Kolk, Lizet E., Berger, Lieke P. V., Wevers, Marijke R., Wagner, Anja, Caanen, Barbara A. H., Stiggelbout, Anne M., Smets, Ellen M. A.
Published in Familial cancer (01.01.2020)
Published in Familial cancer (01.01.2020)
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Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives
de Geus, Eveline, Eijzenga, Willem, Menko, Fred H., Sijmons, Rolf H., de Haes, Hanneke C. J. M., Aalfs, Cora M., Smets, Ellen M. A.
Published in Journal of genetic counseling (01.12.2016)
Published in Journal of genetic counseling (01.12.2016)
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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study
Postema, Floor A. M., Hopman, Saskia M. J., de Borgie, Corianne A. J. M., Aalfs, Cora M., Anninga, Jakob K., Berger, Lieke P. V., Bleeker, Fonnet E., Dommering, Charlotte J., van Eijkelenburg, Natasha K. A., Hammond, Peter, van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kors, Wijnanda A., Letteboer, Tom G. W., Loeffen, Jan L. C. M., Meijer, Lisethe, Olderode-Berends, Maran J. W., Wagner, Anja, Hennekam, Raoul C., Merks, Johannes H. M.
Published in Familial cancer (01.10.2021)
Published in Familial cancer (01.10.2021)
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Prophylactic total pancreatectomy in individuals at high risk of pancreatic ductal adenocarcinoma (PROPAN): systematic review and shared decision-making programme using decision tables
Scholten, Lianne, Latenstein, Anouk EJ, Aalfs, Cora M, Bruno, Marco J, Busch, Olivier R, Bonsing, Bert A., Koerkamp, Bas Groot, Molenaar, I Quintus, Ubbink, Dirk T, van Hooft, Jeanin E, Fockens, Paul, Glas, Jolanda, DeVries, J Hans, Besselink, Marc G
Published in United European Gastroenterology Journal (01.10.2020)
Published in United European Gastroenterology Journal (01.10.2020)
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Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
Harinck, Femme, Kluijt, Irma, van Mil, Saskia E, Waisfisz, Quinten, van Os, Theo A M, Aalfs, Cora M, Wagner, Anja, Olderode-Berends, Maran, Sijmons, Rolf H, Kuipers, Ernst J, Poley, Jan-Werner, Fockens, Paul, Bruno, Marco J
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers
Pijpe, Anouk, Manders, Peggy, Brohet, Richard M., Collée, J. Margriet, Verhoef, Senno, Vasen, Hans F. A., Hoogerbrugge, Nicoline, van Asperen, Christi J., Dommering, Charlotte, Ausems, Margreet G. E. M., Aalfs, Cora M., Gomez-Garcia, Encarna B., van‘t Veer, Laura J., van Leeuwen, Flora E., Rookus, Matti A.
Published in Breast cancer research and treatment (01.02.2010)
Published in Breast cancer research and treatment (01.02.2010)
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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
Reumkens, Kelly, Tummers, Marly H. E., Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, C. Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Published in Familial cancer (01.01.2019)
Published in Familial cancer (01.01.2019)
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Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
Harinck, Femme, Kluijt, Irma, van der Stoep, Nienke, Oldenburg, Rogier A, Wagner, Anja, Aalfs, Cora M, Sijmons, Rolf H, Poley, Jan-Werner, Kuipers, Ernst J, Fockens, Paul, van Os, Theo A M, Bruno, Marco J
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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