Works by Aalfs, Cora M.

Results: 26

Addition of an online, validated family history questionnaire to the Dutch FIT-based screening programme did not improve its diagnostic yield.

Published in:

2020

By:

Roos, Victorine H.;
Kallenberg, Frank G. J.;
van der Vlugt, Manon;
Bongers, Evelien J. C.;
Aalfs, Cora M.;
Bossuyt, Patrick M. M.;
Dekker, Evelien

Publication type:

journal article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Published in:

2019

By:

Qian, Frank;
Rookus, Matti A.;
Leslie, Goska;
Risch, Harvey A.;
Greene, Mark H.;
Aalfs, Cora M.;
Adank, Muriel A.;
Adlard, Julian;
Agnarsson, Bjarni A.;
Ahmed, Munaza;
Aittomäki, Kristiina;
Andrulis, Irene L.;
Arnold, Norbert;
Arun, Banu K.;
Ausems, Margreet G. E. M.;
Azzollini, Jacopo;
Barrowdale, Daniel;
Barwell, Julian;
Benitez, Javier;
Białkowska, Katarzyna

Publication type:

journal article

Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision‐making.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 3, p. 533, doi. 10.1002/jgc4.1056

By:

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.

Publication type:

Article

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Published in:

NPJ Breast Cancer, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41523-019-0127-5

By:

Figlioli, Gisella;
Bogliolo, Massimo;
Catucci, Irene;
Caleca, Laura;
Lasheras, Sandra Viz;
Pujol, Roser;
Kiiski, Johanna I.;
Muranen, Taru A.;
Barnes, Daniel R.;
Dennis, Joe;
Michailidou, Kyriaki;
Bolla, Manjeet K.;
Leslie, Goska;
Aalfs, Cora M.;
ABCTB Investigators;
Balleine, Rosemary;
Baxter, Robert;
Braye, Stephen;
Carpenter, Jane;
Dahlstrom, Jane

Publication type:

Article

Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63605

By:

van Weelden, Wenneke;
Bleeker, Fonnet E.;
van Stijn, Diana;
Micha, Dimitra;
Maugeri, Alessandra;
Kuijpers, Taco W.;
Koch, Arjun D.;
Aalfs, Cora M.;
Wagner, Anja;
Groenink, Maarten;
van Oldenrijk, Jakob;
Baars, Marieke J.;
Duijkers, Floor A. M.

Publication type:

Article

Informing relatives about their hereditary or familial cancer risk: study protocol for a randomized controlled trial.

Published in:

Trials, 2014, v. 15, n. 1, p. 86, doi. 10.1186/1745-6215-15-86

By:

de Geus, Eveline;
Aalfs, Cora M.;
Verdam, Mathilde G. E.;
de Haes, Hanneke C. J. M.;
Smets, Ellen M. A.

Publication type:

Article

Informing relatives about their hereditary or familial cancer risk: study protocol for a randomized controlled trial.

Published in:

2014

By:

de Geus, Eveline;
Aalfs, Cora M;
Verdam, Mathilde Ge;
de Haes, Hanneke Cjm;
Smets, Ellen Ma;
Verdam, Mathilde G E;
de Haes, Hanneke C J M;
Smets, Ellen M A

Publication type:

journal article

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Published in:

Familial Cancer, 2021, v. 20, n. 4, p. 263, doi. 10.1007/s10689-021-00237-1

By:

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.

Publication type:

Article

'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.

Published in:

Familial Cancer, 2020, v. 19, n. 1, p. 65, doi. 10.1007/s10689-019-00154-4

By:

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.

Publication type:

Article

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.

Published in:

Familial Cancer, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s10689-018-0092-4

By:

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.

Publication type:

Article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1557, doi. 10.1002/humu.23818

By:

Parsons, Michael T.;
Tudini, Emma;
Li, Hongyan;
Hahnen, Eric;
Wappenschmidt, Barbara;
Feliubadaló, Lidia;
Aalfs, Cora M.;
Agata, Simona;
Aittomäki, Kristiina;
Alducci, Elisa;
Alonso‐Cerezo, María Concepción;
Arnold, Norbert;
Auber, Bernd;
Austin, Rachel;
Azzollini, Jacopo;
Balmaña, Judith;
Barbieri, Elena;
Bartram, Claus R.;
Blanco, Ana;
Blümcke, Britta

Publication type:

Article

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 18, doi. 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N

By:

Aalfs, Cora M.;
Salieb-Beugelaar, Georgette B.;
Wanders, Ronald J.A.;
Mannens, Marcel M.A.M.;
Wijburg, Frits A.

Publication type:

Article

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

Published in:

Human Mutation, 1998, v. 11, p. S62, doi. 10.1002/humu.1380110122

By:

Deutz-Terlouw, Piette P.;
Losekoot, Monique;
Aalfs, Cora M.;
Hennekam, Raoul C.M.;
Bakker, Egbert

Publication type:

Article

A scoping review of practice recommendations for clinicians' communication of uncertainty.

Published in:

Health Expectations, 2021, v. 24, n. 4, p. 1025, doi. 10.1111/hex.13255

By:

Medendorp, Niki M.;
Stiggelbout, Anne M.;
Aalfs, Cora M.;
Han, Paul K. J.;
Smets, Ellen M. A.;
Hillen, Marij A.

Publication type:

Article

ASO Visual Abstract: Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.

Published in:

2023

By:

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.

Publication type:

Abstract

Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs.

Published in:

2003

By:

Aalfs, Cora M.;
Smets, Ellen M.A.;
de Haes, Hanneke C.J.M.;
Leschot, Nico J.

Publication type:

journal article

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226

By:

Harinck, Femme;
Kluijt, Irma;
van Mil, Saskia E;
Waisfisz, Quinten;
van Os, Theo AM;
Aalfs, Cora M;
Wagner, Anja;
Olderode-Berends, Maran;
Sijmons, Rolf H;
Kuipers, Ernst J;
Poley, Jan-Werner;
Fockens, Paul;
Bruno, Marco J

Publication type:

Article

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.

Published in:

BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1235-4

By:

Potjer, Thomas P.;
van der Stoep, Nienke;
Houwing-Duistermaat, Jeanine J.;
Konings, Ingrid C. A. W.;
Aalfs, Cora M.;
den Akker, Peter C. van;
Ausems, Margreet G.;
Dommering, Charlotte J.;
van der Kolk, Lizet E.;
Maiburg, Merel C.;
Spruijt, Liesbeth;
Wagner, Anja;
Vasen, Hans F. A.;
Hes, Frederik J.

Publication type:

Article

An E-Learning Module to Improve Nongenetic Health Professionals' Assessment of Colorectal Cancer Genetic Risk: Feasibility Study.

Published in:

Journal of Medical Internet Research, 2017, v. 19, n. 12, p. 1, doi. 10.2196/mededu.7173

By:

Douma, Kirsten Freya Lea;
Smets, Ellen M;
Shand, Fiona;
Petrie, Katherine;
Reda, Bill;
Christensen, Helen;
Aalfs, Cora M;
Morley, Kirsten;
Dekker, Evelien;
Batterham, Philip J;
Tanis, Pieter J;
Berrouiguet, Sofian;
Haber, Paul S;
Carter, Gregory

Publication type:

Article

Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis.

Published in:

International Journal of Cancer, 2015, v. 136, n. 3, p. 668, doi. 10.1002/ijc.29032

By:

Heemskerk‐Gerritsen, Bernadette A.M.;
Rookus, Matti A.;
Aalfs, Cora M.;
Ausems, Margreet G.E.M.;
Collée, Johanna M.;
Jansen, Liesbeth;
Kets, C. Marleen;
Keymeulen, Kristien B.M.I.;
Koppert, Linetta B.;
Meijers‐Heijboer, Hanne E.J.;
Mooij, Thea M.;
Tollenaar, Rob A.E.M.;
Vasen, Hans F.A.;
HEBON;
Hooning, Maartje J.;
Seynaeve, Caroline

Publication type:

Article

Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study.

Published in:

International Journal of Cancer, 2014, v. 135, n. 12, p. 2940, doi. 10.1002/ijc.28941

By:

Saadatmand, Sepideh;
Vos, Janet R.;
Hooning, Maartje J.;
Oosterwijk, Jan C.;
Koppert, Linetta B.;
de Bock, Geertruida H.;
Ausems, Margreet G.;
van Asperen, Christi J.;
Aalfs, Cora M.;
Gómez Garcia, Encarna B.;
Meijers‐Heijboer, Hanne;
Hoogerbrugge, Nicoline;
Piek, Marianne;
Seynaeve, Caroline;
Verhoef, Cornelis;
Rookus, Matti;
Tilanus‐Linthorst, Madeleine M.

Publication type:

Article

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.

Published in:

Clinical Genetics, 1996, v. 49, n. 1, p. 42, doi. 10.1111/j.1399-0004.1996.tb04323.x

By:

Aalfs, Cora M.;
Jacobs, Marja E.;
Nieste-Otter, Marlëlle A.;
Hennekam, Raoul C. M.;
Hoovers, Jan M. N.

Publication type:

Article

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1769, doi. 10.1093/hmg/8.9.1769

By:

Kalff-Suske, Martha;
Wild, Anja;
Topp, Juliane;
Wessling, Martina;
Jacobsen, Eva-Maria;
Bornholdt, Dorothea;
Engel, Hartmut;
Heuer, Heike;
Aalfs, Cora M.;
Ausems, Margreet G.E.M.;
Barone, Rita;
Herzog, Andreas;
Heutink, Peter;
Homfray, Tessa;
Gillessen-Kaesbach, Gabriele;
Konig, Rainer;
Kunze, Jurgen;
Meinecke, Peter;
Muller, Dietmar;
Rizzo, Renata

Publication type:

Article

Germline CDKN1B/p27<sup>Kip1</sup> Mutation in Multiple Endocrine Neoplasia.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 3321, doi. 10.1210/jc.2006-2843

By:

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

Publication type:

Article

Repeated participation in pancreatic cancer surveillance by high-risk individuals imposes low psychological burden.

Published in:

2016

By:

Konings, Ingrid C. A. W.;
Sidharta, Grace N.;
Harinck, Femme;
Aalfs, Cora M.;
Poley, Jan‐Werner;
Kieffer, Jacobien M.;
Kuenen, Marianne A.;
Smets, Ellen M. A.;
Wagner, Anja;
Hooft, Jeanin E.;
Rens, Anja;
Fockens, Paul;
Bruno, Marco J.;
Bleiker, Eveline M. A.

Publication type:

journal article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Published in:

2019

By:

Qian, Frank;
Wang, Shengfeng;
Mitchell, Jonathan;
McGuffog, Lesley;
Barrowdale, Daniel;
Leslie, Goska;
Oosterwijk, Jan C;
Chung, Wendy K;
Evans, D Gareth;
Engel, Christoph;
Kast, Karin;
Aalfs, Cora M;
Adank, Muriel A;
Adlard, Julian;
Agnarsson, Bjarni A;
Aittomäki, Kristiina;
Alducci, Elisa;
Andrulis, Irene L;
Arun, Banu K;
Ausems, Margreet G E M

Publication type:

journal article