Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Autor: Antoniou, AC, Kuchenbaecker, KB, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, OM, Caligo, MA, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, FB, van Os, TA, Verhoef, S, Meijers-Heijboer, HE, Wijnen, J, Gómez Garcia, EB, Ligtenberg, MJ, Kriege, M, Collée, JM, Ausems, MG, Oosterwijk, JC, Peock, S, Frost, D, Ellis, SD, Platte, R, Fineberg, E, Evans, DG, Lalloo, F, Jacobs, C, Eeles, R, Adlard, J, Davidson, R, Cole, T, Cook, J, Paterson, J, Douglas, F, Brewer, C, Hodgson, S, Morrison, PJ, Walker, L, Rogers, MT, Donaldson, A, Dorkins, H, Godwin, AK, Bove, B, Stoppa-Lyonnet, D, Houdayer, C, Buecher, B, de Pauw, A, Mazoyer, S, Calender, A, Léoné, M, Bressac-de Paillerets, B, Caron, O, Sobol, H, Frenay, M, Prieur, F, Ferrer, SU, Mortemousque, I, Buys, S, Daly, M, Miron, A, Terry, MU, Hopper, JL, John, EM, Southey, M, Goldgar, D, Singer, CF, Fink-Retter, A, Tea, MK, Kaulich, DU, Hansen, TV, Nielsen, FC, Barkardottir, RB, Gaudet, M, Kirchhoff, T, Joseph, V, Dutra-Clarke, A, Offit, K, Piedmonte, M, Kirk, J, Cohn, D, Hurteau, J, Byron, J, Fiorica, J, Toland, AE, Montagna, M, Oliani, C, Imyanitov, E, Isaacs, C, Tihomirova, L, Blanco, I, Lazaro, C, Teulé, A, Valle, JD, Gayther, SA, Odunsi, K, Gross, J, Karlan, BY, Olah, E, Teo, SH, Ganz, PA, Beattie, MS, Dorfling, CM, van Rensburg, EU, Diez, O, Kwong, A, Schmutzler, RK, Wappenschmidt, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Heidemann, S, Niederacher, D, Preisler-Adams, S, Gadzicki, D, Varon-Mateeva, R, Deissler, H, Gehrig, A, Sutter, C, Kast, K, Fiebig, B, Schäfer, D, Caldes, T, de la Hoya, M, Nevanlinna, H, Muranen, TA, Lespérance, B, Spurdle, AB, Neuhausen, SL, Ding, YC, Wang, X, Fredericksen, Z, Pankratz, VS, Lindor, NM, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Bonanni, B, Bernard, L, Dolcetti, R, Papi, L, Ottini, L, Radice, P, Greene, MH, Loud, JT, Andrulis, IL, Ozcelik, H, Mulligan, AU, Glendon, G, Thomassen, M, Gerdes, AM, Jensen, UB, Skytte, AB, Kruse, TA, Chenevix-Trench, G, Couch, FJ, Simard, J, Easton, DF, CIMBA, SWE-BRCA, HEBON, EMBRACE, GEMO Collaborators Study, kConFab Investigators

Publikováno v: Breast Cancer Res

Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibilit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::7160425b8ed26febded85f2cb6294976
https://openaccess.sgul.ac.uk/id/eprint/100528/1/bcr3121.pdf

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Autor: Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. s.w.ten.broeke@umcg.nl., Rodríguez-Girondo M; Department of Medical Statistics, Leiden University Medical Center, Leiden, the Netherlands., Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Bernstein I; The Danish HNPCC-register, Hvidovre Hospital, Hvidovre, Denmark.; Department of Surgery, Aalborg University Hospital, Aalborg, Denmark., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, ONCOBELL, CIBERONC, L'Hospitalet de Llobregat, Barcelona, Spain., Engel C; Leipzig University, Leipzig, Germany., Gomez-Garcia EB; Maastricht University Medical Center Maastricht, Maastricht, the Netherlands., van Hest LP; Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, Amsterdam, the Netherlands., von Knebel Doeberitz M; Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Heidelberg, Germany.; Clinical Cooperation Unit Applied Tumor Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Letteboer TGW; Department of Clinical Genetics, University Medical Center, Utrecht, the Netherlands., Moller P; Research Group Inherited Cancer Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Norway.; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Oslo, Norway.; Center for Hereditary Tumors HELIOS-Klinikum Wuppertal, University of Witten-Herdecke, Wuppertal, Germany., van Os TA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, ONCOBELL, CIBERONC, L'Hospitalet de Llobregat, Barcelona, Spain., Rahner N; Heinrich-Heine-University Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany., Olderode-Berends MJW; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., von Salomé J; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Schackert HK; Department of Surgical Research, Technische Universität Dresden, Dresden, Germany., Spruijt L; Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands., Steinke-Lange V; Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany., Wagner A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Tops CMJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Publikováno v: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Biomarkers Prev] 2019 Jun; Vol. 28 (6), pp. 1010-1014. Date of Electronic Publication: 2019 Mar 01.

SNP association study in PMS2-associated Lynch syndrome.

Autor: Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. tenbroeke@lumc.nl., Elsayed FA; Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands., Pagan L; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Olderode-Berends MJW; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Garcia EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Gille HJP; Department of Clinical Genetics, VU Amsterdam, Amsterdam, The Netherlands., van Hest LP; Department of Clinical Genetics, VU Amsterdam, Amsterdam, The Netherlands., Letteboer TGW; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van der Kolk LE; Department of Clinical Genetics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Mensenkamp AR; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Os TA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Spruijt L; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Redeker BJW; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Vos YJ; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Wijnen JT; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Steyerberg EW; Department of Medical Statistics, Leiden University Medical Centre, Leiden, The Netherlands., Tops CMJ; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., van Wezel T; Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

Publikováno v: Familial cancer [Fam Cancer] 2018 Oct; Vol. 17 (4), pp. 507-515.

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Autor: van der Klift HM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. hvdklift@lumc.nl.; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands. hvdklift@lumc.nl., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Drost M; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Bik EC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Gille HJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Redeker BE; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Tiersma Y; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Zonneveld JB; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., García EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Letteboer TG; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Hest LP; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Os TA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Verhoef S; Netherlands Cancer Institute, Amsterdam, The Netherlands.; Clinical Genetics Service, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Hes FJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., de Wind N; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Devilee P; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Wijnen JT; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2016 Nov; Vol. 37 (11), pp. 1162-1179. Date of Electronic Publication: 2016 Aug 21.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

Autor: Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Klift HM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dekkers OM; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Bernstein I; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.; Danish HNPCC Registry, Copenhagen, Denmark., Capellá Munar G; Laboratori de Recerca Translacional, Catalan Institute of Oncology, Barcelona (ICO-IDIBELL), Spain., Gomez Garcia E; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hoogerbrugge N; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Department of Oncology, Radboud University Medical Centre, Nijmegen, The Netherlands., Letteboer TG; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Menko FH; Netherlands Cancer Institute, Amsterdam, The Netherlands., Lindblom A; Department of Clinical Genetics, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Mensenkamp A; Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands., Moller P; Department of Medical Genetics, Research Group Inherited Cancer, Oslo University Hospital, Oslo, Norway., van Os TA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Rahner N; Institut für Humangenetik und Anthropologie, Dusseldorf, Germany., Redeker BJ; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Olderode-Berends MJ, Spruijt L; Department of Oncology, Radboud University Medical Centre, Nijmegen, The Netherlands., Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Morreau H; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vasen HF; Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Wijnen JT; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Apr; Vol. 18 (4), pp. 405-9. Date of Electronic Publication: 2015 Jun 25.