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Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome.
Published in:
Genes, Chromosomes & Cancer, 2024, v. 63, n. 5, p. 1, doi. 10.1002/gcc.23237
By:
- van der Werf‐'t Lam, Anne‐Sophie;
- Rodriguez‐Girondo, Mar;
- Villasmil, Mandy;
- Tops, Carli M.;
- van Hest, Liselotte;
- Gille, Hans J. P.;
- Duijkers, Floor A. M.;
- Wagner, Anja;
- Eikenboom, Ellis;
- Letteboer, Tom G. W.;
- de Jong, Mirjam M.;
- Bajwa‐ten Broeke, Sanne W.;
- Bleeker, Fonnet;
- Gomez Garcia, Encarna B.;
- Dominguez‐Valentin, Mev;
- Møller, Pal;
- Suerink, Manon;
- Nielsen, Maartje
Publication type:
Article
The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters.
Published in:
Psycho-Oncology, 2013, v. 22, n. 4, p. 902, doi. 10.1002/pon.3081
By:
- Vos, Joël;
- Asperen, Christi J.;
- Oosterwijk, Jan C.;
- Menko, Fred H.;
- Collee, Margriet J.;
- Garcia, Encarna Gomez;
- Tibben, Aad
Publication type:
Article
Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result.
Published in:
Psycho-Oncology, 2012, v. 21, n. 1, p. 29, doi. 10.1002/pon.1864
By:
- Vos, Joël;
- Gómez‐García, Encarna;
- Oosterwijk, Jan C.;
- Menko, Fred H.;
- Stoel, Reinoud D.;
- van Asperen, Christi J.;
- Jansen, Anna M.;
- Stiggelbout, Anne M.;
- Tibben, Aad
Publication type:
Article
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Published in:
Cancers, 2021, v. 13, n. 17, p. 4430, doi. 10.3390/cancers13174430
By:
- Wieme, Greet;
- Kral, Jan;
- Rosseel, Toon;
- Zemankova, Petra;
- Parton, Bram;
- Vocka, Michal;
- Van Heetvelde, Mattias;
- Kleiblova, Petra;
- Blaumeiser, Bettina;
- Soukupova, Jana;
- van den Ende, Jenneke;
- Nehasil, Petr;
- Tejpar, Sabine;
- Borecka, Marianna;
- Gómez García, Encarna B.;
- Blok, Marinus J.;
- Safarikova, Marketa;
- Kalousova, Marta;
- Geboes, Karen;
- De Putter, Robin
Publication type:
Article
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50
By:
- Drüsedau, Marion;
- Dreesen, Jos C;
- Derks-Smeets, Inge;
- Coonen, Edith;
- van Golde, Ron;
- van Echten-Arends, Jannie;
- Kastrop, Peter M M;
- Blok, Marinus J;
- Gómez-García, Encarna;
- Geraedts, Joep P;
- Smeets, Hubert J;
- de Die-Smulders, Christine E;
- Paulussen, Aimée D
Publication type:
Article
Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
Published in:
Molecular Biology Reports, 2012, v. 39, n. 7, p. 7429, doi. 10.1007/s11033-012-1575-2
By:
- Brandão, Rita;
- Tserpelis, Demis;
- Gómez García, Encarna;
- Blok, Marinus
Publication type:
Article
Body weight and risk of breast cancer in BRCA1/2 mutation carriers.
Published in:
Breast Cancer Research & Treatment, 2011, v. 126, n. 1, p. 193, doi. 10.1007/s10549-010-1120-8
By:
- Manders, Peggy;
- Pijpe, Anouk;
- Hooning, Maartje;
- Kluijt, Irma;
- Vasen, Hans;
- Hoogerbrugge, Nicoline;
- Asperen, Christi;
- Meijers-Heijboer, Hanne;
- Ausems, Margreet;
- Os, Theo;
- Gomez-Garcia, Encarna;
- Brohet, Richard;
- Leeuwen, Flora;
- Rookus, Matti
Publication type:
Article
Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers.
Published in:
Breast Cancer Research & Treatment, 2010, v. 120, n. 1, p. 235, doi. 10.1007/s10549-009-0476-0
By:
- Pijpe, Anouk;
- Manders, Peggy;
- Brohet, Richard;
- Collée, J.;
- Verhoef, Senno;
- Vasen, Hans;
- Hoogerbrugge, Nicoline;
- Asperen, Christi;
- Dommering, Charlotte;
- Ausems, Margreet;
- Aalfs, Cora;
- Gomez-Garcia, Encarna;
- Veer, Laura;
- Leeuwen, Flora;
- Rookus, Matti
Publication type:
Article
Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
Published in:
2018
By:
- Derks-Smeets, Inge A. P.;
- Schrijver, Lieske H.;
- de Die-Smulders, Christine E. M.;
- Tjan-Heijnen, Vivianne C. G.;
- van Golde, Ron J. T.;
- Smits, Luc J.;
- Caanen, Beppy;
- van Asperen, Christi J.;
- Ausems, Margreet;
- Collée, Margriet;
- van Engelen, Klaartje;
- Kets, C. Marleen;
- van der Kolk, Lizet;
- Oosterwijk, Jan C.;
- van Os, Theo A. M.;
- HEBON;
- Rookus, Matti A.;
- van Leeuwen, Flora E.;
- Gómez García, Encarna B.
Publication type:
journal article
Case report. Birt-Hogg-Dubé – wat moet de uroloog ermee?
Published in:
Tijdschrift voor Urologie, 2024, v. 14, n. 4, p. 91, doi. 10.1007/s13629-024-00426-4
By:
- Helgers, Rianne J. A.;
- Waltman, Ghislaine C.;
- Goudkade, Danny;
- Gómez García, Encarna B.;
- de Vries, Michiel;
- Jacobs, Rens A. L.;
- Delaere, Filip J. M.
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
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157381
By:
- Jansen, Anne M. L.;
- Geilenkirchen, Marije A.;
- van Wezel, Tom;
- Jagmohan-Changur, Shantie C.;
- Ruano, Dina;
- van der Klift, Heleen M.;
- van den Akker, Brendy E. W. M.;
- Laros, Jeroen F. J.;
- van Galen, Michiel;
- Wagner, Anja;
- Letteboer, Tom G. W.;
- Gómez-García, Encarna B.;
- Tops, Carli M. J.;
- Vasen, Hans F.;
- Devilee, Peter;
- Hes, Frederik J.;
- Morreau, Hans;
- Wijnen, Juul T.
Publication type:
Article
SNP association study in PMS2-associated Lynch syndrome.
Published in:
Familial Cancer, 2018, v. 17, n. 4, p. 507, doi. 10.1007/s10689-017-0061-3
By:
- ten Broeke, Sanne W.;
- Elsayed, Fadwa A.;
- Pagan, Lisa;
- Olderode-Berends, Maran J. W.;
- Garcia, Encarna Gomez;
- Gille, Hans J. P.;
- van Hest, Liselot P.;
- Letteboer, Tom G. W.;
- van der Kolk, Lizet E.;
- Mensenkamp, Arjen R.;
- van Os, Theo A.;
- Spruijt, Liesbeth;
- Redeker, Bert J. W.;
- Suerink, Manon;
- Vos, Yvonne J.;
- Wagner, Anja;
- Wijnen, Juul T.;
- Steyerberg, E. W.;
- Tops, Carli M. J.;
- van Wezel, Tom
Publication type:
Article
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Published in:
Familial Cancer, 2015, v. 14, n. 1, p. 89, doi. 10.1007/s10689-014-9764-x
By:
- Vogelaar, Ingrid;
- Post, Rachel;
- Vosse, Esther;
- Krieken, J.;
- Hoogerbrugge, Nicoline;
- Ligtenberg, Marjolijn;
- Gómez García, Encarna
Publication type:
Article
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study.
Published in:
Familial Cancer, 2014, v. 13, n. 3, p. 469, doi. 10.1007/s10689-014-9711-x
By:
- Koeneman, Margot;
- Kruse, Arnold-Jan;
- Sep, Simone;
- Gubbels, Cynthia;
- Slangen, Brigitte;
- Gorp, Toon;
- Lopes, Alberto;
- Gomez-Garcia, Encarna;
- Kruitwagen, Roy
Publication type:
Article
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Published in:
Familial Cancer, 2014, v. 13, n. 1, p. 57, doi. 10.1007/s10689-013-9674-3
By:
- Nieuwenhuis, Marry;
- Kets, C.;
- Murphy-Ryan, Maureen;
- Yntema, Helger;
- Evans, D.;
- Colas, Chrystelle;
- Møller, Pal;
- Hes, Frederik;
- Hodgson, Shirley;
- Olderode-Berends, Maran;
- Aretz, Stefan;
- Heinimann, Karl;
- Gómez García, Encarna;
- Douglas, Fiona;
- Spigelman, Allan;
- Timshel, Susanne;
- Lindor, Noralane;
- Vasen, Hans
Publication type:
Article
Attitude towards pre-implantation genetic diagnosis for hereditary cancer.
Published in:
Familial Cancer, 2009, v. 8, n. 4, p. 457, doi. 10.1007/s10689-009-9265-5
By:
- Lammens, Chantal;
- Bleiker, Eveline;
- Aaronson, Neil;
- Vriends, Annette;
- Ausems, Margreet;
- Jansweijer, Maaike;
- Wagner, Anja;
- Sijmons, Rolf;
- Ouweland, Ans;
- Luijt, Rob;
- Spruijt, Liesbeth;
- Gómez García, Encarna;
- Ruijs, Mariëlle;
- Verhoef, Senno
Publication type:
Article
Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study.
Published in:
PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0275015
By:
- Heemskerk-Gerritsen, Bernadette A. M.;
- Hollestelle, Antoinette;
- van Asperen, Christi J.;
- van den Beek, Irma;
- van Driel, Willemien J.;
- van Engelen, Klaartje;
- Gómez Garcia, Encarna B.;
- de Hullu, Joanne A.;
- Koudijs, Marco J.;
- Mourits, Marian J. E.;
- Hooning, Maartje J.;
- Boere, Ingrid A.
Publication type:
Article
The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411
By:
- Colombo, Mara;
- Lòpez‐Perolio, Irene;
- Meeks, Huong D.;
- Caleca, Laura;
- Parsons, Michael T.;
- Li, Hongyan;
- De Vecchi, Giovanna;
- Tudini, Emma;
- Foglia, Claudia;
- Mondini, Patrizia;
- Manoukian, Siranoush;
- Behar, Raquel;
- Garcia, Encarna B. Gómez;
- Meindl, Alfons;
- Montagna, Marco;
- Niederacher, Dieter;
- Schmidt, Ane Y.;
- Varesco, Liliana;
- Wappenschmidt, Barbara;
- Bolla, Manjeet K.
Publication type:
Article
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137
By:
- Weren, Robbert D.A.;
- Mensenkamp, Arjen R.;
- Simons, Michiel;
- Eijkelenboom, Astrid;
- Sie, Aisha S.;
- Ouchene, Hicham;
- Asseldonk, Monique;
- Gomez‐Garcia, Encarna B.;
- Blok, Marinus J.;
- Hullu, Joanne A.;
- Nelen, Marcel R.;
- Hoischen, Alexander;
- Bulten, Johan;
- Tops, Bastiaan B.J.;
- Hoogerbrugge, Nicoline;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Published in:
Human Mutation, 2016, v. 37, n. 11, p. 1162, doi. 10.1002/humu.23052
By:
- Klift, Heleen M.;
- Mensenkamp, Arjen R.;
- Drost, Mark;
- Bik, Elsa C.;
- Vos, Yvonne J.;
- Gille, Hans J.J.P.;
- Redeker, Bert E.J.W.;
- Tiersma, Yvonne;
- Zonneveld, José B.M.;
- García, Encarna Gómez;
- Letteboer, Tom G.W.;
- Olderode‐Berends, Maran J.W.;
- Hest, Liselotte P.;
- Os, Theo A.;
- Verhoef, Senno;
- Wagner, Anja;
- Asperen, Christi J.;
- ten Broeke, Sanne W.;
- Hes, Frederik J.;
- Wind, Niels
Publication type:
Article
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study.
Published in:
Human Mutation, 2012, v. 33, n. 3, p. 561, doi. 10.1002/humu.22016
By:
- Verhagen, Mijke M. M.;
- Last, James I.;
- Hogervorst, Frans B. L.;
- Smeets, Dominique F. C. M.;
- Roeleveld, Nel;
- Verheijen, Frans;
- Catsman-Berrevoets, Coriene E.;
- Wulffraat, Nico M.;
- Cobben, Jan M.;
- Hiel, Johan;
- Brunt, Ewout R.;
- Peeters, Els A. J.;
- Gómez Garcia, Encarna B.;
- van der Knaap, Marjo S.;
- Lincke, Carsten R.;
- Laan, Laura A. E. M.;
- Tijssen, Marina A. J.;
- van Rijn, Monique A.;
- Majoor-Krakauer, Danielle;
- Visser, Marjan
Publication type:
Article
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients.
Published in:
Human Mutation, 2010, v. 31, n. 5, p. 578, doi. 10.1002/humu.21229
By:
- van der Klift, Heleen M.;
- Tops, Carli M.J.;
- Bik, Elsa C.;
- Boogaard, Merel W.;
- Borgstein, Anne-Marijke;
- Hansson, Kerstin B.M.;
- Ausems, Margreet G.E.M.;
- Garcia, Encarna Gomez;
- Green, Andrew;
- Hes, Frederik J.;
- Izatt, Louise;
- van Hest, Liselotte P.;
- Alonso, Angel M.;
- Vriends, Annette H.J.T.;
- Wagner, Anja;
- van Zelst-Stams, Wendy A.G.;
- Vasen, Hans F.A.;
- Morreau, Hans;
- Devilee, Peter;
- Wijnen, Juul T.
Publication type:
Article
Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
Published in:
2021
By:
- Jonge, Marthe M de;
- Kroon, Cornelis D de;
- Jenner, Denise J;
- Oosting, Jan;
- Hullu, Joanne A de;
- Mourits, Marian J E;
- Garcia, Encarna B Gómez;
- Ausems, Margreet G E M;
- Collée, J Margriet;
- Engelen, Klaartje van;
- van de Beek, Irma;
- Group, The Hebon;
- Smit, Vincent T H B M;
- Rookus, Matti A;
- Bock, Geertruida H de;
- Leeuwen, Flora E van;
- Bosse, Tjalling;
- Dekkers, Olaf M;
- Asperen, Christi J van;
- de Jonge, Marthe M
Publication type:
journal article
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers.
Published in:
JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 3, p. 193, doi. 10.1093/jnci/djp473
By:
- Baglietto, Laura;
- Lindor, Noralane M.;
- Dowty, James G.;
- White, Darren M.;
- Wagner, Anja;
- Garcia, Encarna B. Gomez;
- Vriends, Annette H. J. T.;
- Cartwright, Nicola R.;
- Barnetson, Rebecca A.;
- Farrington, Susan M.;
- Tenesa, Albert;
- Hampel, Heather;
- Buchanan, Daniel;
- Arnold, Sven;
- Young, Joanne;
- Walsh, Michael D.;
- Jass, Jeremy;
- Macrae, Finlay;
- Antill, Yoland;
- Winship, Ingrid M.
Publication type:
Article

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