Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
Por:
Osorio, A, Milne, RL, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Chen, X, Healey, S, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, IL, Ozcelik, H, Weerasooriya, N, Gerdes, AM, Thomassen, M, Cruger, DG, Caligo, MA, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernstrom, H, Askmalm, MS, Arver, B, Malmer, B, Domchek, SM, Nathanson, KL, Brunet, J, Cajal, TRY, Yannoukakos, D, Hamann, U, Hogervorst, FBL, Verhoef, S, Garcia, EBG, Wijnen, JT, van den Ouweland, A, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Evans, DG, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, PJ, Douglas, F, Godwin, AK, Sinilnikova, OM, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Revillion, F, Peyrat, JP, Muller, D, Fricker, JP, Lynch, HT, John, EM, Buys, S, Daly, M, Hopper, JL, Terry, MB, Miron, A, Yassin, Y, Goldgar, D, Singer, CF, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, AC, Hansen, TV, Johannsson, OT, Kirchhoff, T, Offit, K, Kosarin, 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, Varon-Mateeva, R, Schaefer, D, Froster, UG, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, AC, Nevanlinna, H, Radice, P, Benitez, J
Publicada:
8 dic 2009
Resumen:
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.
METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach.
RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers.
CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK
Filiaciones:
Osorio, A:
Spanish Natl Canc Res Ctr, Human Genet Grp, Madrid, Spain
Milne, RL:
Spanish Natl Canc Res Ctr, Genet & Mol Epidemiol Grp, Madrid, Spain
Pita, G:
Spanish Natl Canc Res Ctr, Human Canc Genet Programme, Genotyping Unit, Madrid, Spain
Peterlongo, P:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Fdn Ist FIRC Oncol Mol, Milan, Italy
Heikkinen, T:
Helsinki Univ Cent Hosp, Dept Obstet & Gynaecol, Helsvinki, Finland
Simard, J:
Ctr Hosp Univ Quebec, Canc Genom Lab, Canada Res Chair Oncogenet, Quebec City, PQ, Canada
Univ Laval, Quebec City, PQ, Canada
Chenevix-Trench, G:
Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia
Spurdle, AB:
Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia
Beesley, J:
Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia
Chen, X:
Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia
Healey, S:
Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia
Neuhausen, SL:
Univ Calif Irvine, Sch Med, Dept Epidemiol, Irvine, CA 92717 USA
Ding, YC:
Univ Calif Irvine, Sch Med, Dept Epidemiol, Irvine, CA 92717 USA
Couch, FJ:
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA
Wang, X:
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
Lindor, N:
Mayo Clin, Dept Med Genet, Rochester, MN USA
Manoukian, S:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Barile, M:
Ist Europeo Oncol, Milan, Italy
Viel, A:
IRCCS, Ctr Riferimento Oncol, Aviano, PN, Italy
Tizzoni, L:
Fdn Ist FIRC Oncol Mol, Milan, Italy
Consortium Genom Technol, 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, Fac Med 1, Dept Biochem & Expt Oncol, Prague, Czech Republic
Claes, K:
Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
Greene, MH:
NCI, Clin Genet Branch, Rockville, MD USA
Mai, P:
NCI, Clin Genet Branch, Rockville, MD USA
Rennert, G:
Carmel Hosp, CHS Natl Canc Control Ctr, Haifa, Israel
Technion Israel Inst Technol, Fac Med, Haifa, Israel
Lejbkowicz, F:
Carmel Hosp, CHS Natl Canc Control Ctr, Haifa, Israel
Technion Israel Inst Technol, Fac Med, Haifa, Israel
Barnett-Griness, O:
Carmel Hosp, CHS Natl Canc Control Ctr, Haifa, Israel
Technion Israel Inst Technol, Fac Med, Haifa, Israel
Andrulis, IL:
Ontario Canc Genet Network, Toronto, ON, Canada
Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada
Ozcelik, H:
Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada
Weerasooriya, N:
Ontario Canc Genet Network, Toronto, ON, Canada
Gerdes, AM:
Odense Univ Hosp, Clin Genet BFG, DK-5000 Odense, Denmark
Thomassen, M:
Odense Univ Hosp, Clin Genet BFG, DK-5000 Odense, Denmark
Cruger, DG:
Vejle Hosp, Dept Clin Genet, Vijle, Denmark
Caligo, MA:
Univ Pisa, Dept Oncol, Div Pathol, Pisa, Italy
Univ Hosp Pisa, Pisa, Italy
Friedman, E:
Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Kaufman, B:
Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Laitman, Y:
Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
Cohen, S:
Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
Kontorovich, T:
Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
Gershoni-Baruch, R:
Rambam Med Ctr, Haifa, Israel
Dagan, E:
Univ Haifa, Fac Social Welf & Hlth Sci, Dept Nursing, IL-31999 Haifa, Israel
Inst Human Genet, Haifa, Israel
Jernstrom, H:
Lund Univ, Dept Oncol, Lund, Sweden
Askmalm, MS:
Linkoping Univ Hosp, Dept Oncol, S-58185 Linkoping, Sweden
Arver, B:
Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden
Malmer, B:
Umea Univ, Dept Radiat Sci, Umea, Sweden
Domchek, SM:
Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA
Nathanson, KL:
Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA
Brunet, J:
Hosp Dr Josep Trueta IdiBGi, Inst Catalan Oncol, Programa Consejo Genet Canc, Girona, Spain
Cajal, TRY:
Hosp Santa Creu & Sant Pau, Med Oncol Serv, Barcelona, Spain
Yannoukakos, D:
Demokritos Natl Ctr Sci Res, IRRP, Mol Diagnost Lab, GR-15310 Athens, Greece
Hamann, U:
Deutsch Krebsforschungszentrum, D-6900 Heidelberg, Germany
Hogervorst, FBL:
Netherlands Canc Inst, Family Canc Clin, Dept Clin Mol Genet, Amsterdam, Netherlands
Verhoef, S:
Netherlands Canc Inst, Family Canc Clin, Dept Clin Mol Genet, Amsterdam, Netherlands
Garcia, EBG:
Univ Med Ctr, Dept Genet & Cell Biol, Maastricht, Netherlands
Res Inst Growth & Dev, Maastricht, Netherlands
Wijnen, JT:
Leiden Univ, Med Ctr, Dept Clin Mol Genet, Leiden, Netherlands
Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands
van den Ouweland, A:
Erasmus Univ, Med Ctr, Dept Mol Genet, Rotterdam, Netherlands
Easton, DF:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
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
Oliver, CT:
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
Luccarini, C:
Univ Cambridge, Dept Oncol, Cambridge, England
Evans, DG:
St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England
Lalloo, F:
St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England
Eeles, R:
Inst Canc Res, Translat Canc Genet Team, London SW3 6JB, England
Royal Marsden NHS Fdn Trust, London, England
Pichert, G:
Guys Hosp, London SE1 9RT, England
Cook, J:
Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
Hodgson, S:
Univ London, St Georges Hosp, Dept Canc Genet, London, England
Morrison, PJ:
Belfast City Hosp, No Ireland Reg Genet Ctr, Belfast BT9 7AD, Antrim, North Ireland
Douglas, F:
Newcastle Upon Tyne Hosp NHS Trust, Inst Human Genet, Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England
Godwin, AK:
Fox Chase Canc Ctr, Philadelphia, PA 19111 USA
Sinilnikova, OM:
Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Univ Lyon, Lab Genet Mol Signalisat & Canc, CNRS, UMR5201, Lyon, France
Barjhoux, L:
Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Univ Lyon, Lab Genet Mol Signalisat & Canc, CNRS, UMR5201, Lyon, France
Stoppa-Lyonnet, D:
Univ Paris 05, Inst Curie, Serv Gent Oncol, INSERM,U509, Paris, France
Moncoutier, V:
Univ Paris 05, Inst Curie, Serv Gent Oncol, INSERM,U509, Paris, France
Giraud, S:
Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Cassini, C:
Ctr Genet, Dijon, France
CLCC Georges Francois Leclerc, Dijon, France
Olivier-Faivre, L:
Ctr Genet, Dijon, France
CLCC Georges Francois Leclerc, Dijon, France
Revillion, F:
Ctr Oscar Lambret, Human Mol Oncol Lab, F-59020 Lille, France
Peyrat, JP:
Ctr Oscar Lambret, Human Mol Oncol Lab, F-59020 Lille, France
Muller, D:
CLCC Paul Strauss, Unite Oncogenet, Strasbourg, France
Fricker, JP:
CLCC Paul Strauss, Unite Oncogenet, Strasbourg, France
Lynch, HT:
Creighton Univ, Dept Prevent Med, Omaha, NE 68178 USA
John, EM:
No Calif Canc Ctr, Fremont, CA USA
Buys, S:
Huntsman Canc Inst, Salt Lake City, UT USA
Daly, M:
Fox Chase Canc Ctr, Philadelphia, PA 19111 USA
Hopper, JL:
Univ Melbourne, Melbourne, Vic, Australia
Terry, MB:
Columbia Univ, New York, NY USA
Miron, A:
Dana Farber Canc Inst, Boston, MA 02115 USA
Yassin, Y:
Dana Farber Canc Inst, Boston, MA 02115 USA
Goldgar, D:
Univ Utah, Dept Dermatol, Salt Lake City, UT USA
Singer, CF:
Med Univ Vienna, Dept OB GYN, Div Special Gynecol, Vienna, Austria
Gschwantler-Kaulich, D:
Med Univ Vienna, Dept OB GYN, Div Special Gynecol, Vienna, Austria
Pfeiler, G:
Med Univ Vienna, Dept OB GYN, Div Special Gynecol, Vienna, Austria
Spiess, AC:
Med Univ Vienna, Dept OB GYN, Div Special Gynecol, Vienna, Austria
Hansen, TV:
Odense Univ Hosp, Dept Biochem Pharmacol & Genet, DK-5000 Odense, Denmark
Johannsson, OT:
Landspitali Univ Hosp, Dept Oncol, Reykjavik, Iceland
Kirchhoff, T:
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
Kosarin, 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 USA
Wakeley, K:
Tufts Univ, New England Med Ctr, Boston, MA 02111 USA
Boggess, JF:
Univ N Carolina, Chapel Hill, NC USA
Basil, J:
St Elizabeth Hosp, Edgewood, KY USA
Schwartz, PE:
Yale Univ, Sch Med, New Haven, CT USA
Blank, SV:
NYU, Sch Med, New York, NY USA
Toland, AE:
Ohio State Univ, Ctr Comprehens Canc, Div Human Canc Genet, Dept Internal Med & Mol Virol, Columbus, OH 43210 USA
Ohio State Univ, Ctr Comprehens Canc, Div Human Canc Genet, Dept Immunol, Columbus, OH 43210 USA
Ohio State Univ, Ctr Comprehens Canc, Div Human Canc Genet, Dept Med Genet, Columbus, OH 43210 USA
Montagna, M:
IRCCS, Inst Oncol Veneto, Padua, Italy
Casella, C:
Dept Oncol & Surg Sci, Padua, Italy
Imyanitov, EN:
NN Petrov Oncol Res Inst, St Petersburg, Russia
Allavena, A:
Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
Schmutzler, RK:
Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaecooncol, Cologne, Germany
Versmold, B:
Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaecooncol, 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 & Gynaecol, Munich, Germany
Arnold, N:
Univ Schleswig Holstein, Dept Obstet & Gynaecol, Lubeck, Germany
Niederacher, D:
Univ Dusseldorf, 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
Varon-Mateeva, R:
Humboldt Univ, Inst Human Genet, Charite, Berlin, Germany
Schaefer, D:
Goethe Univ Frankfurt, Inst Human Genet, Frankfurt, Germany
Froster, UG:
Univ Leipzig, Inst Human Genet, Leipzig, Germany
Caldes, T:
Hosp Clin San Carlos, Madrid, Spain
de la Hoya, M:
Hosp Clin San Carlos, Madrid, Spain
McGuffog, L:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Antoniou, AC:
Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England
Nevanlinna, H:
Helsinki Univ Cent Hosp, Dept Obstet & Gynaecol, Helsvinki, Finland
Radice, P:
Fdn IRCCS Ist Nazl Tumori, Milan, Italy
Fdn Ist FIRC Oncol Mol, Milan, Italy
Benitez, J:
Spanish Natl Canc Res Ctr, Human Genet Grp, Madrid, Spain
Spanish Natl Canc Res Ctr, Human Canc Genet Programme, Genotyping Unit, Madrid, Spain
Green Published, Hybrid Gold
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