Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Por:
Antoniou, AC, Sinilnikova, OM, McGuffog, L, Healey, S, Nevanlinna, H, Heikkinen, T, Simard, J, Spurdle, AB, Beesley, J, Chen, XQ, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, XS, Fredericksen, Z, Peterlongo, P, Peissel, B, Bonanni, B, Viel, A, Bernard, L, Radice, P, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, PL, Rennert, G, Lejbkowicz, F, Andrulis, IL, Ozcelik, H, Glendon, G, Gerdes, AM, Thomassen, M, Sunde, L, Caligo, MA, Laitman, Y, Kontorovich, T, Cohen, S, Kaufman, B, Dagan, E, Baruch, RG, Friedman, E, Harbst, K, Barbany-Bustinza, G, Rantala, J, Ehrencrona, H, Karlsson, P, Domchek, SM, Nathanson, KL, Osorio, A, Blanco, I, Lasa, A, Benitez, J, Hamann, U, Hogervorst, FBL, Rookus, MA, Collee, JM, Devilee, P, Ligtenberg, MJ, van der Luijt, RB, Aalfs, CM, Waisfisz, Q, Wijnen, J, van Roozendaal, CEP, Peock, S, Cook, M, Frost, D, Oliver, C, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Davidson, R, Chu, C, Eccles, D, Cole, T, Hodgson, S, Godwin, AK, Stoppa-Lyonnet, D, Buecher, B, Leone, M, Bressac-de Paillerets, B, Remenieras, A, Caron, O, Lenoir, GM, Sevenet, N, Longy, M, Ferrer, SF, Prieur, F, Goldgar, D, Miron, A, John, EM, Buys, SS, Daly, MB, Hopper, JL, Terry, MB, Yassin, Y, Singer, C, Gschwantler-Kaulich, D, Staudigl, C, Hansen, TVO, Barkardottir, RB, Kirchhoff, T, Pal, P, Kosarin, K, Offit, K, Piedmonte, M, Rodriguez, GC, Wakeley, K, Boggess, JF, Basil, J, Schwartz, PE, Blank, SV, Toland, AE, Montagna, M, Casella, C, Imyanitov, EN, Allavena, A, Schmutzler, RK, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deissler, H, Fiebig, B, Suttner, C, Schonbuchner, I, Gadzicki, D, Caldes, T, de la Hoya, M, Pooley, KA, Easton, DF, Chenevix-Trench, G
Publicada:
15 nov 2009
Resumen:
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.
Filiaciones:
Antoniou, AC:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Sinilnikova, OM:
Univ Lyon, CNRS, Hosp Civils Lyon,Ctr Leon Berard,UMR5201, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
McGuffog, L:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Healey, S:
Queensland Inst Med Res, Brisbane, Qld 4029, Australia
Nevanlinna, H:
Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland
Heikkinen, T:
Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland
Simard, J:
Univ Laval, Quebec City, PQ, Canada
Univ Quebec, Ctr Hosp, Canada Res Chair Oncogenet, Canc Genom Lab, Quebec City, PQ, Canada
Spurdle, AB:
Queensland Inst Med Res, Brisbane, Qld 4029, Australia
Beesley, J:
Queensland Inst Med Res, Brisbane, Qld 4029, Australia
Chen, XQ:
Queensland Inst Med Res, Brisbane, Qld 4029, Australia
Neuhausen, SL:
Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA
Ding, YC:
Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA
Couch, FJ:
Mayo Clin, Rochester, MN USA
Wang, XS:
Mayo Clin, Rochester, MN USA
Fredericksen, Z:
Mayo Clin, Rochester, MN USA
Peterlongo, P:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Fdn Ist FIRC Oncol Molecolare, Milan, Italy
Peissel, B:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Bonanni, B:
Ist Europeo Oncol, Milan, Italy
Viel, A:
IRCCS, Ctr Riferimento Oncol, Aviano, Italy
Bernard, L:
Ist Europeo Oncol, Milan, Italy
Cogentech, Consortium Genom Technol, Milan, Italy
Radice, P:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Fdn Ist FIRC Oncol Molecolare, Milan, Italy
Szabo, CI:
Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USA
Foretova, L:
Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic
Zikan, M:
Charles Univ Prague, Dept Biochem & Expt Oncol, Fac Med 1, Prague, Czech Republic
Claes, K:
Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
Greene, MH:
US Natl Canc Inst, Clin Genet Branch, Rockville, MD USA
Mai, PL:
US Natl Canc Inst, Clin Genet Branch, Rockville, MD USA
Rennert, G:
CHS Natl Canc Control Ctr, Haifa, Israel
Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel
B Rappaport Fac Med, Haifa, Israel
Lejbkowicz, F:
CHS Natl Canc Control Ctr, Haifa, Israel
Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel
B Rappaport Fac Med, Haifa, Israel
Andrulis, IL:
Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada
Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Samuel Lunenfeld Res Inst, Toronto, ON, Canada
Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
Glendon, G:
Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada
Gerdes, AM:
Odense Univ Hosp, Dept Biochem Pharmacol & Genet, DK-5000 Odense, Denmark
Thomassen, M:
Odense Univ Hosp, Dept Biochem Pharmacol & Genet, DK-5000 Odense, Denmark
Sunde, L:
Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark
Caligo, MA:
Univ Pisa, Div Surg Mol & Ultrastructural Pathol, Dept Oncol, Pisa, Italy
Pisa Univ Hosp, Pisa, Italy
Laitman, Y:
Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel
Kontorovich, T:
Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel
Cohen, S:
Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel
Kaufman, B:
Chaim Sheba Med Ctr, Inst Oncol, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Dagan, E:
Rambam Med Ctr, Genet Inst, Haifa, Israel
Baruch, RG:
Rambam Med Ctr, Genet Inst, Haifa, Israel
Friedman, E:
Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Harbst, K:
Lund Univ, Dept Oncol, S-22100 Lund, Sweden
Barbany-Bustinza, G:
Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
Rantala, J:
Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
Ehrencrona, H:
Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden
Karlsson, P:
Sahlgrenska Univ, Dept Oncol, Gothenburg, Sweden
Domchek, SM:
Univ Penn, Philadelphia, PA 19104 USA
Nathanson, KL:
Univ Penn, Philadelphia, PA 19104 USA
Osorio, A:
Ctr Invest Biomed Red Enfermedades Raras CIBERERE, Inst Salud Carlos III, Madrid, Spain
Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain
Blanco, I:
Catalan Inst Oncol ICO, Canc Genet Counseling Program, Barcelona, Spain
Lasa, A:
Hosp Santa Creu & Sant Pau, Genet Serv, Barcelona, Spain
Benitez, J:
Ctr Invest Biomed Red Enfermedades Raras CIBERERE, Inst Salud Carlos III, Madrid, Spain
Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain
Hamann, U:
Deutsch Krebsforschungszentrum, Neuenheimer Feld 580 69120, D-6900 Heidelberg, Germany
Hogervorst, FBL:
Netherlands Canc Inst, Dept Pathol, Family Canc Clin, NL-1066 CX Amsterdam, Netherlands
Rookus, MA:
Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands
Collee, JM:
Erasmus Univ, Dept Clin Genet, Rotterdam Family Canc Clin, Med Ctr, NL-3000 DR Rotterdam, Netherlands
Devilee, P:
Dept Genet Epidemiol, Leiden, Netherlands
Ligtenberg, MJ:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
van der Luijt, RB:
Univ Utrecht, Med Ctr, Dept Clin Mol Genet, NL-3508 TC Utrecht, Netherlands
Aalfs, CM:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands
Waisfisz, Q:
Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
Wijnen, J:
Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands
van Roozendaal, CEP:
Univ Med Ctr, Dept Clin Genet, Maastricht, Netherlands
Peock, S:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Cook, M:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Frost, D:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Oliver, C:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Platte, R:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Evans, DG:
Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England
Lalloo, F:
Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England
Eeles, R:
Inst Canc Res, Translat Canc Genet Team, London SW3 6JB, England
Royal Marsden NHS Fdn Trust, London, England
Izatt, L:
Guys Hosp, Clin Genet, London SE1 9RT, England
Davidson, R:
Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland
Chu, C:
Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
Eccles, D:
Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England
Cole, T:
Birmingham Womens Hosp Healthcare, NHS Trust, W Midlands Reg Genet Serv, Birmingham, W Midlands, England
Hodgson, S:
Univ London, Dept Canc Genet, St Georges Hosp, London, England
Godwin, AK:
Fox Chase Canc Ctr, Philadelphia, PA 19111 USA
Stoppa-Lyonnet, D:
Univ Paris 05, Paris, France
Inst Curie, INSERM U509, Serv Genet Oncol, Paris, France
Buecher, B:
Inst Curie, Dept Genet, Paris, France
Leone, M:
Univ Lyon, CNRS, Hosp Civils Lyon,Ctr Leon Berard,UMR5201, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Bressac-de Paillerets, B:
Inst Cancrol Gustave Roussy, Dept Genet, Villejuif, France
Inst Cancerol Gustave Roussy, INSERM U946, Villejuif, France
Remenieras, A:
Inst Cancrol Gustave Roussy, Dept Genet, Villejuif, France
Caron, O:
Inst Cancerol Gustave Roussy, Dept Med, Villejuif, France
Lenoir, GM:
Inst Cancrol Gustave Roussy, Dept Genet, Villejuif, France
Inst Cancerol Gustave Roussy, CNRS FRE2939, Villejuif, France
Sevenet, N:
Inst Bergonie, Lab Genet Constitutionnelle, Bordeaux, France
Longy, M:
Inst Bergonie, Lab Genet Constitutionnelle, Bordeaux, France
Inst Bergonie, INSERM U916, Bordeaux, France
Ferrer, SF:
Hop Hotel Dieu, Ctr Hosp, Lab Genet Chromosom, Chambery, France
Prieur, F:
CHU St Etienne, Serv Genet Clin Chromosom, St Etienne, France
Goldgar, D:
Univ Utah, Dept Dermatol, Salt Lake City, UT 84112 USA
Miron, A:
Dana Farber Canc Inst, Boston, MA 02115 USA
John, EM:
No Calif Canc Ctr, Fremont, CA USA
Stanford Univ, Sch Med, Stanford, CA 94305 USA
Buys, SS:
Univ Utah, Hlth Sci Ctr, Huntsman Canc Inst, Salt Lake City, UT USA
Daly, MB:
Fox Chase Canc Ctr, Philadelphia, PA 19111 USA
Hopper, JL:
Univ Melbourne, Melbourne, Australia
Terry, MB:
Columbia Univ, New York, NY USA
Yassin, Y:
Dana Farber Canc Inst, Boston, MA 02115 USA
Singer, C:
Med Univ Vienna, Div Special Gynecol, Dept OB GYN, Vienna, Austria
Gschwantler-Kaulich, D:
Med Univ Vienna, Div Special Gynecol, Dept OB GYN, Vienna, Austria
Staudigl, C:
Med Univ Vienna, Div Special Gynecol, Dept OB GYN, Vienna, Austria
Hansen, TVO:
Univ Copenhagen, Rigshosp, Dept Clin Biochem, DK-2100 Copenhagen, Denmark
Barkardottir, RB:
Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland
Kirchhoff, T:
Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10021 USA
Pal, P:
Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10021 USA
Kosarin, K:
Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10021 USA
Offit, K:
Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10021 USA
Piedmonte, M:
Roswell Pk Canc Inst, GOG Stat & Data Ctr, Buffalo, NY 14263 USA
Rodriguez, GC:
Evanston NW Healthcare, NorthShore Univ Hlth Syst, Evanston, IL 60201 USA
Wakeley, K:
Tufts Univ, New England Med Ctr, Boston, MA 02111 USA
Boggess, JF:
Univ N Carolina, Chapel Hill, NC 27599 USA
Basil, J:
St Elizabeth Hosp, Edgewood, KY 41017 USA
Schwartz, PE:
Yale Univ, Sch Med, New Haven, CT 06510 USA
Blank, SV:
NYU, Sch Med, New York, NY 10016 USA
Toland, AE:
Ohio State Univ, Dept Internal Med, Columbus, OH 43210 USA
Ohio State Univ, Div Human Canc Genet, Ctr Comprehens Canc, Columbus, OH 43210 USA
Montagna, M:
IRCCS, Ist Oncologico Veneto, Immunol & Mol Oncol Unit, Padua, Italy
Casella, C:
IRCCS, Ist Oncologico Veneto, Immunol & Mol Oncol Unit, Padua, Italy
Imyanitov, EN:
NN Petrov Inst Res Inst, St Petersburg, Russia
Allavena, A:
Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
Schmutzler, RK:
Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaeco Oncol, Cologne, Germany
Versmold, B:
Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaeco Oncol, Cologne, Germany
Engel, C:
Univ Leipzig, Inst Med Informat Stat & Epidemiol, Leipzig, Germany
Meindl, A:
Tech Univ Munich, Dept Obstet & Gynaecol, Munich, Germany
Ditsch, N:
Univ Munich, Dept Obstet & Gynecol, Munich, Germany
Arnold, N:
Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaeco Oncol, Cologne, Germany
Niederacher, D:
Univ Duesseldorf, Dept Obstet & Gynaecol, Mol Genet Lab, Dusseldorf, Germany
Deissler, H:
Univ Ulm, Dept Obstet & Gynaecol, Ulm, Germany
Fiebig, B:
Univ Regensburg, Inst Human Genet, Regensburg, Germany
Suttner, C:
Heidelberg Univ, Inst Human Genet, Heidelberg, Germany
Schonbuchner, I:
Univ Wurzburg, Inst Human Genet, D-8700 Wurzburg, Germany
Gadzicki, D:
Med Univ, Inst Cellular & Mol Pathol, Hannover, Germany
Caldes, T:
Hosp Clinico San Carlos 28040, Madrid, Spain
de la Hoya, M:
Hosp Clinico San Carlos 28040, Madrid, Spain
Pooley, KA:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Easton, DF:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Chenevix-Trench, G:
Queensland Inst Med Res, Brisbane, Qld 4029, Australia
Univ Schleswig Holstein, Dept Obstet & Gynaecol, Campus Kiel, Germany.
Bronze, Green Published
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