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14 results on '"Frénay, Marc"'

1. BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

Author: Julian-Reynier, Claire, Fabre, Roxane, Coupier, Isabelle, Stoppa-Lyonnet, Dominique, Lasset, Christine, Caron, Olivier, Mouret-Fourme, Emmanuelle, Berthet, Pascaline, Faivre, Laurence, Frenay, Marc, Gesta, Paul, Gladieff, Laurence, Bouhnik, Anne-Deborah, Protière, Christel, and Noguès, Catherine
Published: 2012
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2. Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics

Author: Julian-Reynier, Claire, Bouhnik, Anne-Déborah, Mouret-Fourme, Emanuelle, Gauthier-Villars, Marion, Berthet, Pascaline, Lasset, Christine, Fricker, Jean-Pierre, Caron, Olivier, Gesta, Paul, Luporsi, Elisabeth, Faivre, Laurence, Longy, Michel, Gladieff, Laurence, Frenay, Marc, Dreyfus, Héléne, Sobol, Hagay, Vennin, Philippe, and Nogués, Catherine
Published: 2010
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3. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

Author: Gad, Sophie, Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Gauthier-Villars, Marion, Coupier, Isabelle, Pujol, Pascal, Frénay, Marc, Gilbert, Brigitte, Maugard, Christine, Bignon, Yves-Jean, Chevrier, Annie, Rossi, Annick, Fricker, Jean-Pierre, Nguyen, Tan Dat, Demange, Liliane, Aurias, Alain, Bensimon, Aaron, and Stoppa-Lyonnet, Dominique
Published: 2002
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4. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author: Blein, Sophie, Bardel, Claire, Danjean, Vincent, Mcguffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Conejero, Raquel Andrés, Segota, Ena, Weitzel, Jeffrey N., Thelander, Margo, Peterlongo, Paolo, Radice, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Bonanni, Bernardo, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Manoukian, Siranoush, Varesco, Liliana, Capone, Gabriele L., Papi, Laura, Ottini, Laura, Yannoukakos, Drakoulis, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brady, Angela, Brewer, Carole, Foo, Claire, Evans, D. Gareth, Frost, Debra, Eccles, Diana, Douglas, Fiona, Cook, Jackie, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Tischkowitz, Marc, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Cole, Trevor, Godwin, Andrew K., Isaacs, Claudine, Claes, Kathleen, De Leeneer, Kim, Meindl, Alfons, Gehrig, Andrea, Wappenschmidt, Barbara, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert, Varon Mateeva, Raymonda, Schmutzler, Rita K., Preisler Adams, Sabine, Markov, Nadja Bogdanova, Wang Gohrke, Shan, de Pauw, Antoine, Lefol, Cédrick, Lasset, Christine, Leroux, Dominique, Rouleau, Etienne, Damiola, Francesca, Dreyfus, Hélène, Barjhoux, Laure, Golmard, Lisa, Uhrhammer, Nancy, Bonadona, Valérie, Sornin, Valérie, Bignon, Yves Jean, Carter, Jonathan, Van Le, Linda, Piedmonte, Marion, Disilvestro, Paul A., de la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Jager, Agnes, van den Ouweland, Ans M. W., Kets, Carolien M., Aalfs, Cora M., van Leeuwen, Flora E., Hogervorst, Frans B. L., Meijers Heijboer, Hanne E. J., Oosterwijk, Jan C., van Roozendaal, Kees E. P., Rookus, Matti A., Devilee, Peter, van der Luijt, Rob B., Olah, Edith, Diez, Orland, Teulé, Alex, Lazaro, Conxi, Blanco, Ignacio, Del Valle, Jesús, Jakubowska, Anna, Sukiennicki, Grzegorz, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Agnarsson, Bjarni A., Maugard, Christine, Amadori, Alberto, Montagna, Marco, Teixeira, Manuel R., Spurdle, Amanda B., Foulkes, William, Olswold, Curtis, Lindor, Noralane M., Pankratz, Vernon S., Szabo, Csilla I., Lincoln, Anne, Jacobs, Lauren, Corines, Marina, Robson, Mark, Vijai, Joseph, Berger, Andreas, Fink Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy Kheng, Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Tchatchou, Sandrine, Toland, Amanda Ewart, Pedersen, Inge Sokilde, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Caligo, Maria A., Friedman, Eitan, Zidan, Jamal, Laitman, Yael, Lindblom, Annika, Melin, Beatrice, Arver, Brita, Loman, Niklas, Rosenquist, Richard, Olopade, Olufunmilayo I., Nussbaum, Robert L., Ramus, Susan J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Orsulic, Sandra, Stoppa Lyonnet, Dominique, Thomas, Gilles, Simard, Jacques, Couch, Fergus J., Offit, Kenneth, Easton, Douglas F., Chenevix Trench, Georgia, Antoniou, Antonis C., Mazoyer, Sylvie, Phelan, Catherine M., Sinilnikova, Olga M., Cox, David G., Angelakos, Maggie, Maskiell, Judi, Dite, Gillian, Tsimiklis, Helen, Rudaitis, Vilius, Griškevicius, Laimonas, Eglitis, Drs Janis, Krilova, Anna, Stengrevics, Aivars, Ding, Chun, Steele, Linda, Barroso, Alicia, Alonso, Rosario, Pita, Guillermo, Viel, Alessandra, della Puppa, Lara, Barile, Monica, Tommasi, Stefania, Pilato, Brunella, Lambo, Rossana, Martayan, Aline, Tibiletti, Maria Grazia, Ellis, Steve, Fineberg, Elena, Miedzybrodzka, Zosia, Gregory, Helen, Jeffers, Lisa, Ong, Kai Ren, Hoffman, Jonathan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Mccann, Emma, Barton, David, Drummond, Sarah, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Jacobs, Chris, Langman, Caroline, Dorkins, Huw, Serra Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Collier, Rebecca, Claber, Oonagh, Jobson, Irene, Mcleod, Diane, Halliday, Dorothy, Durell, Sarah, Stayner, Barbara, Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Quarrell, Oliver, Bardsley, Cathryn, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Lucassen, Anneke, Crawford, Gillian, Mcbride, Donna, Smalley, Sarah, Weaver, Jo Ellen, Bove, Betsy, Verny Pierre, Carole, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Gauthier Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Belotti, Muriel, Tirapo, Carole, Bressac de Paillerets, Brigitte, Caron, Olivier, Handallou, Sandrine, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Eisinger, François, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Frénay, Marc, Vénat Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Sokolowska, Johanna, Bronner, Myriam, Collonge Rame, Marie Agnès, Damette, Alexandre, Lynch, Henry T., Snyder, Carrie L., Muranen, Taru A., Blomqvist, Drs Carl, Aaltonen, Kirsimari, Erkkilä, Irja, Palola, Virpi, Verhoef, S., Schmidt, M. K., de Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., van Cronenburg, T. C. T. E. F., Mensenkamp, A. R., Ausems, M. G. E. M., van Os, T. A. M., Gille, J. J. P., Waisfisz, Q., Gómez Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Vasen, H. F., Siesling, S., Overbeek, L. I. H., Papp, Janos, Vaszko, Tibor, Bozsik, Aniko, Pocza, Timea, Franko, Judit, Balogh, Maria, Domokos, Gabriella, Ferenczi, Judit, Balmaña, J., Capella, Gabriel, Dumont, Martine, Tranchant, Martine, Peixoto, Ana, Santos, Catarina, Rocha, Patrícia, Pinto, Pedro, Thorne, Heather, Niedermayr, Eveline, Foretova, Lenka, Machackova, Eva, Zikan, Michal, Pohlreich, Petr, Kleibl, Zdenek, Dishon, Sara, Lejbkowicz, Flavio, Pinchev, Mila, Senter, Leigha, Sweet, Kevin, Craven, Caroline, O'Conor, Michelle, Borg, Ake, Olsson, Håkan, Jernström, Helena, Henriksson, Karin, Harbst, Katja, Soller, Maria, Kristoffersson, Ulf, Öfverholm, Anna, Nordling, Margareta, Karlsson, Per, Einbeigi, Zakaria, von Wachenfeldt, Anna, Liljegren, Annelie, Bustinza, Gisela Barbany, Rantala, Johanna, Ardnor, Christina Edwinsdotter, Emanuelsson, Monica, Ehrencrona, Hans, Pigg, Maritta Hellström, Stenmark Askmalm, Marie, Liedgren, Sigrun, Zvocec, Cecilia, Niu, Qun, Seldon, Joyce, Kwan, Lorna, Crawford, Beth, Loranger, Kate, Mak, Julie, Stewart, Nicola, Lee, Robin, Blanco, Amie, Conrad, Peggy, Chan, Salina, Pharoah, Paul D. P., Gayther, Simon, Pye, Carole, Harrington, Patricia, Wozniak, Eva, Lindeman, Geoffrey, Harris, Marion, Delatycki, Martin, Sawyer, Sarah, Driessen, Rebecca, Thompson, Ella, Breast Cancer Family Registry, Null, Embrace, Null, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Medical Oncology, Clinical Genetics, Radiotherapy, MUMC+: DA KG Lab Specialisten (9), Klinische Genetica, Genetica & Celbiologie, RS: FHML non-thematic output, [ 1 ] Univ Lyon 1, Ctr Rech Cancerol Lyon, CNRS, INSERM U1052,UMR5286, F-69365 Lyon, France [ 2 ] Univ Lyon, F-69000 Lyon, France [ 3 ] Univ Lyon 1, F-69100 Villeurbanne, France [ 4 ] Univ Lyon 1, CNRS, Lab Biometrie & Biol Evolut LBBE Biometrie & Bio, UMR 5558, F-69622 Villeurbanne, France [ 5 ] Univ Grenoble Alpes, Lab Informat Grenoble LIG, Equipe Projet Multiprogrammat & Ordonnancement Re, UMR 5217, F-38041 Grenoble, France [ 6 ] INRIA Rhone Alpes, Equipe Projet MOAIS, F-38334 Saint Ismier, France [ 7 ] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England [ 8 ] QIMR Berghofer, Dept Genet & Computat Biol, Brisbane, Qld, Australia [ 9 ] Univ Laval, Ctr Hosp Univ Quebec, Ctr Rech, Charlesbourg, PQ, Canada [ 10 ] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA [ 11 ] Columbia Univ, Dept Pediat, Coll Phys & Surg, New York, NY 10027 USA [ 12 ] Columbia Univ, Dept Med, Coll Phys & Surg, New York, NY 10027 USA [ 13 ] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA [ 14 ] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT USA [ 15 ] Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA 94538 USA [ 16 ] Vilnius State Univ, Hosp Santariskiu Clin, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania [ 17 ] State Res Inst, Ctr Innovat Med, Dept Mol & Regenerat Med, Vilnius, Lithuania [ 18 ] Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia [ 19 ] Beth Israel Deaconess Med Ctr, Div Hematol Oncol, Boston, MA 02215 USA [ 20 ] Univ Pretoria, Dept Genet, ZA-0028 Pretoria, South Africa [ 21 ] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA [ 22 ] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark [ 23 ] Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark [ 24 ] Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark [ 25 ] Spanish Natl Canc Res Ctr CNIO, Human Genet Grp, Madrid, Spain [ 26 ] Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain [ 27 ] Hosp Clin Univ Lozano Blesa, Med Oncol Serv, Zaragoza 50009, Spain [ 28 ] Holy Cross Hosp, Michael & Dianne Bienes Comprehens Canc Ctr, Ft Lauderdale, FL USA [ 29 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Div Clin Canc Genet, Duarte, CA 91010 USA [ 30 ] John Muir Med Ctr, Walnut Creek, CA USA [ 31 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA [ 32 ] Ist FIRC Oncol Mol IFOM, I-20139 Milan, Italy [ 33 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, I-20133 Milan, Italy [ 34 ] Cogentech Canc Genet Test Lab, I-20139 Milan, Italy [ 35 ] Ctr Riferimento Oncol CRO, Canc Bioimmunotherapy Unit, I-33081 Aviano, Italy [ 36 ] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy [ 37 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Med Genet, I-20133 Milan, Italy [ 38 ] Azienda Osped Univ San Martino Genova, IST Ist Nazl Ric Cancro, IRCCS, Dept Epidemiol Prevent & Special Funct,Unit Hered, I-16132 Genoa, Italy [ 39 ] FiorGen Fdn Pharmacogen, I-50019 Sesto Fiorentino, Italy [ 40 ] Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy [ 41 ] Univ Roma La Sapienza, Dept Mol Med, I-00185 Rome, Italy [ 42 ] Aristotle Univ Thessaloniki, Papageorgiou Hosp, Sch Med, Dept Med Oncol, GR-54006 Thessaloniki, Greece [ 43 ] Natl Ctr Sci Res Demokritos, INRASTES, Mol Diagnost Lab, Athens, Greece [ 44 ] Dana Farber Canc Inst, Boston, MA 02215 USA [ 45 ] Deutsch Krebsforschungszentrum DKFZ, Mol Genet Breast Canc, Heidelberg, Germany [ 46 ] St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England [ 47 ] Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow, Middx, England [ 48 ] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England [ 49 ] Liverpool Womens NHS Fdn Trust, Merseyside & Cheshire Clin Genet Serv, Liverpool L8 7SS, Merseyside, England [ 50 ] Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Genet Med, Manchester, Lancs, England [ 51 ] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Cambridge CB1 8RN, England [ 52 ] Univ Southampton, Southampton Univ Hosp, NHS Trust, Fac Med, Southampton SO16 6YD, Hants, England [ 53 ] Newcastle Upon Tyne Hosp, NHS Trust, Int Ctr Life, Inst Human Genet,Northern Genet Serv, Newcastle Upon Tyne NE1 4EP, Tyne & Wear, England [ 54 ] Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England [ 55 ] Leeds Teaching Hosp, NHS Trust, Old Med Sch, Yorkshire Reg Genet Serv, Leeds LS1 3EX, W Yorkshire, England [ 56 ] Univ Hosp Leicester, NHS Trust, Leicester Royal Infirm, Dept Clin Genet,Leicestershire Clin Genet Serv, Leicester LE1 5WW, Leics, England [ 57 ] Churchill Hosp, Oxford Reg Genet Serv, Oxford OX3 7LE, England [ 58 ] Guys Hosp, Guys & St Thomas NHS Fdn Trust, Clin Genet Serv, London SE1 9RT, England [ 59 ] Great Ormond St Hosp Sick Children, NHS Trust, North East Thames Reg Genet Serv, London WC1N 3BH, England [ 60 ] Trinity Coll Dublin, Acad Unit Clin & Mol Oncol, Dublin 2, Ireland [ 61 ] St James Hosp, Med Oncol Serv, Dublin 8, Ireland [ 62 ] Cambridge Univ Hosp, Addenbrookes Hosp, NHS Fdn Trust, Addenbrookes Treatment Ctr,Dept Clin Genet,East A, Cambridge CB2 0QQ, England [ 63 ] Univ Wales Hosp, All Wales Med Genet Serv, Cardiff CF14 4XW, S Glam, Wales [ 64 ] Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland [ 65 ] Queens Univ Belfast, Sch Med Dent & Biomed Sci, Ctr Canc Res & Cell Biol, Belfast BT9 7AE, Antrim, North Ireland [ 66 ] Belfast City Hosp, Belfast Hlth & Social Care Trust, Dept Med Genet, Belfast BT9 7AB, Antrim, North Ireland [ 67 ] Inst Canc Res, Oncogenet Team, London SW7 3RP, England [ 68 ] Royal Marsden NHS Fdn Trust, London SW7 3RP, England [ 69 ] Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow G3 8SJ, Lanark, Scotland [ 70 ] Univ London St Georges Hosp, Dept Med Genet, South West Thames Reg Genet Serv, London SW17 0RE, England [ 71 ] Birmingham Womens Hosp, Healthcare NHS Trust, West Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England [ 72 ] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66160 USA [ 73 ] MedStar Georgetown Univ Hosp, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA [ 74 ] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium [ 75 ] Tech Univ Munich, Univ Hosp Klinikum Rechts Isar, Dept Obstet & Gynaecol, Div Tumor Genet, D-81675 Munich, Germany [ 76 ] Univ Wurzburg, Inst Humangenet, Ctr Familial Breast & Ovarian Canc, Biozentrum,Dept Med Genet, D-97074 Wurzburg, Germany [ 77 ] Univ Hosp Cologne, Fac Med, Canc Ctr Cologne, CIO,Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany [ 78 ] Univ Cologne, CMMC, D-50931 Cologne, Germany [ 79 ] Univ Heidelberg Hosp, Inst Human Genet, Dept Human Genet, Heidelberg, Germany [ 80 ] Univ Leipzig, Fac Med, Inst Med Informat Stat & Epidemiol, D-04109 Leipzig, Germany [ 81 ] Univ Dusseldorf, Univ Hosp Dusseldorf, Dept Obstet & Gynaecol, D-40225 Dusseldorf, Germany [ 82 ] Hannover Med Sch, Ctr Pathol & Forens & Genet Med, Inst Cell & Mol Pathol, D-30625 Hannover, Germany [ 83 ] Univ Med Ctr Schleswig Holstein, Inst Human Genet, D-24105 Kiel, Germany [ 84 ] Tech Univ Dresden, Univ Hosp Carl Gustav Carus Dresden, Dept Gynecol & Obstet, D-01062 Dresden, Germany [ 85 ] Univ Med Ctr Schleswig Holstein, Dept Gynecol & Obstet, D-24105 Kiel, Germany [ 86 ] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany [ 87 ] GC HBOC, Cologne, Germany [ 88 ] Univ Hosp Munster, Inst Human Genet, D-48149 Munster, Germany [ 89 ] Univ Hosp Ulm, Dept Gynecol & Obstet, Ulm, Germany [ 90 ] Inst Curie, Dept Tumor Biol, F-75248 Paris 05, France [ 91 ] Ctr Leon Berard, Unite Prevent & Epidemiol Genet, F-69008 Lyon, France [ 92 ] CHU Grenoble, Genet Clin, F-38043 Grenoble 9, France [ 93 ] Univ Grenoble 1, INSERM, Inst Albert Bonniot, U823, F-38706 La Tronche, France [ 94 ] Hop Rene Huguenin, Lab Oncogenet, F-92210 St Cloud, France [ 95 ] Univ Clermont Ferrand, Ctr Jean Perrin, Dept Oncogenet, F-63011 Clermont Ferrand, France [ 96 ] Royal Prince Alfred Hosp, Sydney Canc Ctr, Gynaecol Oncol, Camperdown, NSW 2050, Australia [ 97 ] Univ Sydney, Camperdown, NSW 2050, Australia [ 98 ] Univ N Carolina, Dept OB GYN, Gynecol Oncol Grp, Chapel Hill, NC 27599 USA [ 99 ] Roswell Pk Canc Inst, Gynecol Oncol Grp Stat & Data Ctr, Buffalo, NY 14263 USA [ 100 ] Brown Univ, Women & Infants Hosp, Providence, RI 02905 USA [ 101 ] Hlth Res Inst San Carlos Clin Hosp IdISSC, Mol Oncol Lab, Madrid 28040, Spain [ 102 ] Univ Helsinki, Dept Obstet & Gynecol, Helsinki 00029, Finland [ 103 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki, Helsinki 00029, Finland [ 104 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki 1, Dept Clin Genet, FIN-00290 Helsinki, Finland [ 105 ] Erasmus Univ, Med Ctr, Dept Med Oncol, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 106 ] Erasmus Univ, Med Ctr, Dept Clin Genet, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 107 ] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands [ 108 ] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands [ 109 ] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands [ 110 ] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands [ 111 ] Vrije Univ Amsterdam, Med Ctr Amsterdam, Dept Clin Genet, NL-1081 HV Amsterdam, Netherlands [ 112 ] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands [ 113 ] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands [ 114 ] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Human Genet, NL-2300 RC Leiden, Netherlands [ 115 ] Leiden Univ, Med Ctr, Dept Pathol, NL-2300 RC Leiden L1Q, Netherlands [ 116 ] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands [ 117 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary [ 118 ] Univ Hosp Vall DHebron, Vall DHebron Inst Oncol VHIO, Vall DHebron Res Inst VHIR, Oncogenet Grp, Barcelona 08035, Spain [ 119 ] Univ Autonoma Barcelona, Barcelona 08035, Spain [ 120 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Genet Counseling Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 121 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Mol Diagnost Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 122 ] Pomeranian Med Univ, Fac Med & Dent, Dept Genet & Pathomorphol, PL-70111 Szczecin, Poland [ 123 ] Landspitali Natl Univ Hosp Iceland, IS-101 Reykjavik, Iceland [ 124 ] Univ Iceland, Fac Med, Sch Med, Sch Hlth Sci, IS-101 Reykjavik, Iceland [ 125 ] Nouvel Hop Civil, Hop Univ Strasbourg, Lab Diagnost Genet, F-67091 Strasbourg, France [ 126 ] Nouvel Hop Civil, Hop Univ Strasbourg, Serv Oncohematol, F-67091 Strasbourg, France [ 127 ] Univ Padua, Dept Surg Sci Oncol & Gastroenterol, Clin Surg 2, I-35124 Padua, Italy [ 128 ] IRCCS, IOV, Immunol & Mol Oncol Unit, I-35128 Padua, Italy [ 129 ] Portuguese Oncol Inst IPO PORTO, Dept Genet, P-4200072 Oporto, Portugal [ 130 ] Univ Porto, ICBAS, P-4050313 Oporto, Portugal [ 131 ] McGill Univ, Dept Human Genet & Oncol, Program Canc Genet, Montreal, PQ J2W 1S6, Canada [ 132 ] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA [ 133 ] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ 85259 USA [ 134 ] NHGRI, NIH, Bethesda, MD 20892 USA [ 135 ] Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10065 USA [ 136 ] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, New York, NY 10065 USA [ 137 ] AKH Wien, Med Univ Vienna, Univ Klin Frauenheilkun, Comprehens Canc Ctr Vienna,Dept Obstet & Gynecol, A-1090 Vienna, Austria [ 138 ] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA [ 139 ] Natl Israeli Canc Control Ctr, IL-34361 Haifa, Israel [ 140 ] Carmel Hosp, Dept Community Med & Epidemiol, Clalit Hlth Serv, IL-34361 Haifa, Israel [ 141 ] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, IL-34362 Haifa, Israel [ 142 ] NN Petrov Oncol Res Inst, St Petersburg 197758, Russia [ 143 ] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON M5S 1A8, Canada [ 144 ] St Michaels Hosp, Keenan Res Ctr, Li Ka Shing Knowledge Inst, Toronto, ON M5B 1T8, Canada [ 145 ] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada [ 146 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada [ 147 ] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada [ 148 ] Dept Human Canc Genet, Columbus, OH 43210 USA [ 149 ] Ohio State Univ, Wexner Med Ctr, Dept Internal Med, Columbus, OH 43210 USA [ 150 ] Ohio State Univ, Wexner Med Ctr, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA [ 151 ] Ohio State Univ, Arthur G James Canc Hosp, Ctr Comprehens Canc, Columbus, OH 43210 USA [ 152 ] Richard J Solove Res Inst OSUCCC James, Columbus, OH 43210 USA [ 153 ] Aalborg Univ Hosp, Dept Biochem, Sect Mol Diagnost, DK-9000 Aalborg, Denmark [ 154 ] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark [ 155 ] Aarhus Univ Hosp, Dept Clin Genet, DK-8200 Aarhus N, Denmark [ 156 ] Azienda Osped Univ Pisana, Osped S Chiara, Div Anat Patol & Diagnost Mol & Ultrastrutturale, Lab Genet Oncol, I-56126 Pisa, Italy [ 157 ] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Sheba Lab Mol Genet, IL-52621 Tel Hashomer, Israel [ 158 ] Inst Oncol, Rivka Ziv Med Ctr, IL-13100 Maimonides, Safed, Israel [ 159 ] Karolinska Univ Hosp, Dept Canc Genet, SE-17176 Stockholm, Sweden [ 160 ] Umea Univ, Dept Radiat Sci, Oncol, SE-90187 Umea, Sweden [ 161 ] Karolinska Univ Hosp, Dept Oncol Pathol, Radiumhemmet, S-17176 Stockholm, Sweden [ 162 ] Univ Lund Hosp, Dept Clin Sci, Div Oncol & Pathol, SE-22185 Lund, Sweden [ 163 ] Uppsala Univ, Dept Immunol Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden [ 164 ] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 165 ] Univ Calif San Francisco, Dept Med & Genet, San Francisco, CA 94143 USA [ 166 ] Univ So Calif, Norris Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA [ 167 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Med, Philadelphia, PA 19104 USA [ 168 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA [ 169 ] Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Div Canc Med, Houston, TX 77230 USA [ 170 ] Peter MacCallum Canc Ctr, Familial Canc Ctr, Sir Peter MacCallum Dept Oncol, East Melbourne, Vic 3002, Australia [ 171 ] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3010, Australia [ 172 ] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA [ 173 ] INSERM, Inst Curie, Serv Genet Oncol, F-75248 Paris, France [ 174 ] Univ Paris 05, Fac Med, Sorbonne Paris Cite, F-75006 Paris, France [ 175 ] Univ Lyon 1, Fac Med Lyon Est, Genet Med, F-69373 Lyon 08, France [ 176 ] Ctr Leon Berard, Fdn Synergie Lyon Canc, Inst Natl Canc INCa, F-69008 Lyon 08, France [ 177 ] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA [ 178 ] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA [ 179 ] Ctr Leon Berard, Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, F-69373 Lyon 08, France [ 180 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA, Human genetics, CCA - Oncogenesis, MUMC+: DA KG Lab Centraal Lab (9), Lee, Andrew [0000-0003-0677-0252], Dennis, Joe [0000-0003-4591-1214], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, and Department of Medical and Clinical Genetics
Subjects: Genetic modifiers, Dna haplogroups, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ADN mitocondrial, SUSCEPTIBILITY, VARIANTS, 0302 clinical medicine, Breast Cancer Family Registry, Brjóstakrabbamein, MULTIPLE, Aetiology, skin and connective tissue diseases, Phylogeny, Cancer, ddc:616, 0303 health sciences, Mutation, education.field_of_study, Variants, SINGLE-NUCLEOTIDE POLYMORPHISMS, Subclade, Mitochondrial DNA, 3. Good health, ddc, Damage, Oncology, Ovarian, 030220 oncology & carcinogenesis, DISEASES, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Single-nucleotide polymorphism, Breast Neoplasms/genetics, EMBRACE, GEMO Study Collaborators, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], Genetics, Humans, education, Cancer och onkologi, Haplotype, BRCA2, Genes, mitochondrial haplogroup T1a1, breast cancer, BRCA2, Cancer and Oncology, GENETIC MODIFIERS, Polymorphisms, Cancer Research, [SDV]Life Sciences [q-bio], medicine.disease_cause, Haplogroup, 610 Medical sciences Medicine, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, 2.1 Biological and endogenous factors, OXIDATIVE STRESS, Non-U.S. Gov't, Medicine(all), Gen, BRCA1 Protein, Research Support, Non-U.S. Gov't, Cohort, OVARIAN, Mitochondria, Mitochondrial, Genes, Mitochondrial, Female, Research Article, Risk, Heterozygote, BRCA1 protein, breast neoplasms, female, genetic predisposition to disease, haplotypes, humans, phylogeny, risk, genes, BRCA2, genes, mitochondrial, heterozygote, mutation, cancer research, oncology, Population, 3122 Cancers, Oncology and Carcinogenesis, Breast Neoplasms, Biology, Research Support, Càncer de mama, Breast Cancer, medicine, Journal Article, Genetic Predisposition to Disease, ddc:610, Oncology & Carcinogenesis, HEBON, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CONSORTIUM, African, DNA HAPLOGROUPS, Arfgengi, Haplotypes, Susceptibility, BRCA1 Protein/genetics, Human mitochondrial DNA haplogroup
Abstract: To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. European Commission Seventh Framework Program 223175: HEALTH-F2-2009-223175 Cancer Research UK C12292/A11174 C1287/A10118 C1287/A11990 C5047/A8385 National Health and Medical Research Council (NHMRC) program National Health and Medical Research Council (NHMRC) American Cancer Society Early Detection Professorship SIOP-06-258-01-COUN Intramural Research Program of the National Cancer Institute, National Institutes of Health National Cancer Institute, National Institutes of Health UM1 CA164920 Lithuania (BFBOCC-LT): Research Council of Lithuania LIG-07/2012 LSC 10.0010.08 European Social Fund 2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016 Liepaja City Council, Liepaja, Latvia Breast Cancer Research Foundation Cancer Association of South Africa (CANSA) Morris and Horowitz Families Professorship in Cancer Etiology and Outcomes Research NEYE Foundation Spanish Association against Cancer (Asociacion Espanola Contra el Cancer) AECC08 Thematic Network Cooperative Research in Cancer (Red Tematica Investigacion Cooperativa en Cancer (RTICC), Centro de Investigacion Cancer, Salamanca, Spain) RTICC 06/0020/1060 Spanish Ministry of Science and Innovation FIS PI08 1120 Fondo de Investigacion Sanitaria (FIS) SAF2010-20493 Fundacion Mutua Madrilena (FMMA) City of Hope Clinical Cancer Genetics Community Network and the Hereditary Cancer Research Registry (COH-CCGCRN) National Cancer Institute and the Office of the Director, National Institutes of Health RC4CA153828 Italian citizens Fondazione IRCCS Istituto Nazionale Tumori Italian Association for Cancer Research (AIRC) European Union (European Social Fund (ESF) Greek national funds through the "Education and Lifelong Learning" operational program of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research and Technology: ARISTEIA "Heracleitus II: Investing in knowledge society through the European Social Fund" Deutsches Krebsforschungszentrum (DKFZ) National Institute for Health Research (NIHR) grant to the Biomedical Research Centre, Manchester, UK NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust, London University of Kansas Cancer Center P30 CA168524 Kansas Bioscience Authority Eminent Scholar Program Chancellors Distinguished Chair in Biomedical Sciences Professorship German Cancer Aid 109076 Center for Molecular Medicine Cologne (CMMC) Ligue National Contre le Cancer Association "Le cancer du sein, parlons-en!" Award Canadian Institutes of Health Research for the CIHR Team in Familial Risks of Breast Cancer program GOA BOF10/GOA/019 Ghent University Hospital National Cancer Institute grants to the GOG Administrative Office and Tissue Bank CA 27469 GOG Statistical and Data Center CA 37517 GOG's Cancer Prevention and Control Committee CA 101165 Instituto de Salud Carlos III (ISCIII), Madrid, Spain RD12/00369/0006 12/00539 European Regional Development Fund (Fonds europeen de developpement regional (FEDER)) funds Helsinki University Central Hospital Research Fund Academy of Finland 266528 Finnish Cancer Society Sigrid Juselius Foundation Dutch Cancer Society NKI1998-1854 NKI2004-3088 NKI2007-3756 Netherlands Organization of Scientific Research NWO 91109024 Pink Ribbon grant 110005 Biobanking and Molecular Resource Infrastructure (BBMRI) NWO 184.021.007/CP46 Hungarian Research and Technological Innovation Fund (KTIA)/Hungarian Scientific Research Fund (Orszagos Tudomanyos Kutatasi Alapprogramok (OTKA)) KTIA-OTKA CK-80745 KTIA-OTKA K-112228 Institut Catala d'Oncologia (ICO): contract grant sponsor: Asociacion Espanola Contra el Cancer Spanish Health Research Foundation Ramon Areces Foundation Instituto de Salud Carlos III (ISCIII) Catalan Health Institute Autonomous Government of Catalonia International Hereditary Cancer Center (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) PBZ_KBN_122/P05/2004 Icelandic Association "Walking for Breast Cancer Research" Landspitali University Hospital Research Fund Canadian Institutes of Health Research (CIHR) for the "CIHR Team in Familial Risks of Breast Cancer" program, Canadian Breast Cancer Research Alliance 019511 Ministry of Economic Development, Innovation and Export Trade PSR-SIIRI-701 Ministero della Salute and a "5 x 1,000" Istituto Oncologico Veneto grant Liga Portuguesa Contra o Cancro National Breast Cancer Foundation Queensland Cancer Fund Cancer Councils of New South Wales, Victoria, Tasmania and South Australia Cancer Foundation of Western Australia National Institutes of Health (NIH) through the National Cancer Institute (NCI) CA 116167 CA 128978 CA 176785 NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer CA116201 US Department of Defense Ovarian Cancer Idea award W81XWH-10-1-0341 Ministry of Health of the Czech Republic to Masaryk Memorial Cancer Institute MMCI 00209805 European Regional Development Fund State Budget of the Czech Republic (RECAMO) CZ. 1.05/2.1.00/03.0101 Charles University in Prague project UNCE204024 Robert and Kate Niehaus Clinical Cancer Genetics Initiative Intramural Research Program of the National Cancer Institute Westat, Inc, Rockville, MD, USA N02-CP-11019-50 N02-CP-65504 Clalit Health Services in Israel Israel Cancer Association Breast Cancer Research Foundation (BCRF), New York, NY, USA Russian Federation for Basic Research 11-04-00227 12-04-00928 12-04-01490 Federal Agency for Science and Innovations, Russia 02.740.11.0780 Ohio State University Comprehensive Cancer Center Istituto Toscano Tumori (ITT) Israeli Inherited Breast Cancer Consortium Swedish Breast Cancer Swedish Cancer Society Ralph and Marion Falk Medical Research Trust Entertainment Industry Fund National Women's Cancer Research Alliance University of California, Los Angeles Jonsson Comprehensive Cancer Center Foundation: Breast Cancer Research Foundation University of California, San Francisco Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center Cancer Research UK University of Pennsylvania: National Institutes of Health (NIH) R01 CA102776 R01 CA083855 Susan G Komen for the Cure, Basser Center for BRCA Victorian Familial Cancer Trials Group (VFCTG): Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation 5U01 CA113916 R01 CA140323 ISCIIIRETIC RD06/0020/1051 PI09/02483 PI10/01422 PI10/00748 PI13/00285 PI13/00189 2009SGR290 PI13/00189 2009SGR283 CA125183 R01 CA142996 1U01CA161032
Published: 2015
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5. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Author: Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Sokolowska, Johanna, Bronner, Myriam, Hansen, Thomas V.O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, M. K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Brauch, Hiltrud, Ko, Yon Dschun, Baisch, Christian, Fischer, Hand Peter, Bruening, Thomas, Pesch, Beate, Rabstein, Sylvia, Spickenheuer, Anne, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, M. J., Cox, Angela, Pharoah, Paul D.P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Rookus, M. A., van Leeuwen, F. E., Verhoef, S., de Lange, J. L., Collée, J. M., Seynaeve, C., van Deurzen, C. H.M., van Asperen, C. J., Tollenaar, R. A., Devilee, P., van Cronenburg, T. C.T.E.F., Mensenkamp, A. R., van der Luijt, R. B., van Os, T. A.M., Gille, J. J.P., Waisfisz, Q., Meijers-Heijboer, H. E.J., Gómez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, Drummond, Sarah, Brewer, Carole, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Izatt, Louise, Langman, Caroline, Brady, Angela, Dorkins, Huw, Melville, Athalie, Randhawa, Kashmir, Barwell, Julian, Serra-Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Douglas, Fiona, Claber, Oonagh, Collier, Rebecca, Jobson, Irene, Walker, Lisa, McLeod, Diane, Durell, Sarah, Stayner, Barbara, Eeles, Rosalind A., Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah, Sinilnikova, Olga, Verny-Pierre, Carole, Giraud, Sophie, Léone, Mélanie, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Tirapo, Carole, de Pauw, Antoine, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Bignon, Yves Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Handallou, Sandrine, Hardouin, Agnés, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Etienne, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Frénay, Marc, Vénat-Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie L., Clinical Genetics, Medical Oncology, Human Genetics, Human genetics, EMGO - Quality of care, Anesthesiology, CCA - Oncogenesis, CCA - Cancer biology and immunology, Epidemiology and Data Science, Department of Obstetrics and Gynecology, Clinicum, and Department of Medical and Clinical Genetics
Subjects: Cancer Research, SUSCEPTIBILITY ALLELES, Genome-wide association study, Aetiology, screening and detection [ONCOL 5], QH426-470, Settore MED/03 - GENETICA MEDICA, Genoma humà, SUBTYPES, Breast cancer, 0302 clinical medicine, Risk Factors, CDKN2A, Genotype, BRCA2 MUTATION CARRIERS, Malalties hereditàries, GWAS, skin and connective tissue diseases, Genetics (clinical), POPULATION, 2. Zero hunger, Genetics, 0303 health sciences, education.field_of_study, BRCA1 Protein, COMMON VARIANTS, genetic modifiers, BRCA2, cancer risk, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 6, Female, Genetic diseases, Adult, Heterozygote, Medizinische Fakultät -ohne weitere Spezifikation, education, Population, Breast Neoplasms, Single-nucleotide polymorphism, Locus (genetics), Human chromosomes, Biology, Polymorphism, Single Nucleotide, OVARIAN-CANCER, BRCA2-specific modifier locus at 6p24, Càncer de mama, 03 medical and health sciences, TRANSCRIPTION FACTOR AP-2, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, GENOME-WIDE ASSOCIATION, Molecular Biology, Alleles, Ecology, Evolution, Behavior and Systematics, Aged, 030304 developmental biology, BRCA2 Protein, Cromosomes humans, Human genome, Hereditary cancer and cancer-related syndromes [ONCOL 1], CONSORTIUM, medicine.disease, Mutation, 3111 Biomedicine, ZNF365, Genome-Wide Association Study
Abstract: Contains fulltext : 118578.pdf (Publisher’s version ) (Open Access) Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9x10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.
Published: 2013
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6. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M, Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L, Greene, Mark H, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Birk Jensen, Uffe, Crüger, Dorthe G, Caligo, Maria A, Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B, Rookus, Matti A, Hooning, Maartje J, Nelen, Marcel R, van der Luijt, Rob B, van Os, Theo A M, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, Hanne E J, Garcia, Encarna B Gómez, Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, Kennedy, M John, Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng, Pfeiler, Georg, Dressler, Anne Catharina, Hansen, Thomas v O, Jønson, Lars, Ejlertsen, Bent, Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D P, Sucheston, Lara, Karlan, Beth Y, Walsh, Christine S, Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L, Beattie, Mary S, van Rensburg, Elizabeth J, Sluiter, Michelle D, Diez, Orland, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B, Neuhausen, Susan L, Chun Ding, Yuan, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S, Couch, Fergus, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M, Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L, Greene, Mark H, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Birk Jensen, Uffe, Crüger, Dorthe G, Caligo, Maria A, Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B, Rookus, Matti A, Hooning, Maartje J, Nelen, Marcel R, van der Luijt, Rob B, van Os, Theo A M, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, Hanne E J, Garcia, Encarna B Gómez, Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, Kennedy, M John, Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng, Pfeiler, Georg, Dressler, Anne Catharina, Hansen, Thomas v O, Jønson, Lars, Ejlertsen, Bent, Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D P, Sucheston, Lara, Karlan, Beth Y, Walsh, Christine S, Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L, Beattie, Mary S, van Rensburg, Elizabeth J, Sluiter, Michelle D, Diez, Orland, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B, Neuhausen, Susan L, Chun Ding, Yuan, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S, Couch, Fergus, Simard, Jacques, Easton, Douglas F, and Chenevix-Trench, Georgia
Abstract: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Published: 2011
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7. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction

Author: Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and Easton, Douglas F
Abstract: The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA collaborators: Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Institutionen för genetik och patologi, Department of Genetics and Pathology, Uppsala University Hospital
Published: 2010
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8. Velocity of tumor spontaneous expansion predicts long-term outcomes for diffuse low-grade gliomas

Author: Pallud, Johan, primary, Blonski, Marie, additional, Mandonnet, Emmanuel, additional, Audureau, Etienne, additional, Fontaine, Denys, additional, Sanai, Nader, additional, Bauchet, Luc, additional, Peruzzi, Philippe, additional, Frénay, Marc, additional, Colin, Philippe, additional, Guillevin, Rémy, additional, Bernier, Valérie, additional, Baron, Marie-Hélène, additional, Guyotat, Jacques, additional, Duffau, Hugues, additional, Taillandier, Luc, additional, and Capelle, Laurent, additional
Published: 2013
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9. Prognostic value of health-related quality-of-life data in predicting survival in patients with anaplastic oligodendrogliomas, from a phase III EORTC brain cancer group study

Author: UCL - Autre, Mauer, Murielle, Taphoorn, Martin, Bottomley, Andrew, Coens, Corneel, Efficace, Fabio, Sanson, Marc, Brandes, Alba A., van der Rijt, Carin, Bernsen, Hans, Frénay, Marc, Tijssen, Cees, Lacombe, Denis, van den Bent, Martin, UCL - Autre, Mauer, Murielle, Taphoorn, Martin, Bottomley, Andrew, Coens, Corneel, Efficace, Fabio, Sanson, Marc, Brandes, Alba A., van der Rijt, Carin, Bernsen, Hans, Frénay, Marc, Tijssen, Cees, Lacombe, Denis, and van den Bent, Martin
Abstract: Purpose This is one of a few studies that have explored the value of baseline symptoms and health-related quality of life (HRQOL) in predicting survival in patients with brain cancer. Patients and Methods Baseline HRQOL scores ( from the European Organisation for Research and Treatment of Cancer [EORTC] Quality of Life Questionnaire C30 and the EORTC Brain Cancer Module) were examined in 247 patients with anaplastic oligodendrogliomas to determine the relationship with overall survival by using Cox proportional hazards regression models. Refined techniques as the bootstrap resampling procedure and the computation of C indexes and R-2 coefficients were used to explore the stability of the models as well as better assess the potential benefit of using HRQOL to predict survival in clinical practice and research. Results Classical analysis controlled for major clinical prognostic factors selected emotional functioning (P=.0016), communication deficit (P=.0261), future uncertainty (P=.0481), and weakness of legs (P=.0001) as statistically significant prognostic factors of survival. However, several issues question the validity of these findings and no single model was found to be preferable over all others. C indexes, which estimate the probability of a model to correctly predict which patient among a randomly chosen pair of patients will survive longer, and R-2 coefficients, which measure the proportion of variability explained by the model, did not exhibit major improvement when adding selected or all HRQOL scores to clinical factors. Conclusion While classical techniques lead to positive results, more refined analyses suggest that baseline HRQOL scores add relatively little to clinical factors to predict survival. These results may have implications for future use of HRQOL as a prognostic factor for patients with cancer.
Published: 2007

10. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author: Antoniou, Antonis C., primary, Beesley, Jonathan, additional, McGuffog, Lesley, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Rebbeck, Timothy R., additional, Weitzel, Jeffrey N., additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Ganz, Patricia A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Couch, Fergus J., additional, Wang, Xianshu, additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Radice, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Viel, Alessandra, additional, Allavena, Anna, additional, Dall'Olio, Valentina, additional, Peterlongo, Paolo, additional, Szabo, Csilla I., additional, Zikan, Michal, additional, Claes, Kathleen, additional, Poppe, Bruce, additional, Foretova, Lenka, additional, Mai, Phuong L., additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Andrulis, Irene L., additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Sunde, Lone, additional, Cruger, Dorthe, additional, Birk Jensen, Uffe, additional, Caligo, Maria, additional, Friedman, Eitan, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Dubrovsky, Maya, additional, Cohen, Shimrit, additional, Borg, Ake, additional, Jernström, Helena, additional, Lindblom, Annika, additional, Rantala, Johanna, additional, Stenmark-Askmalm, Marie, additional, Melin, Beatrice, additional, Nathanson, Kate, additional, Domchek, Susan, additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Huzarski, Tomasz, additional, Osorio, Ana, additional, Lasa, Adriana, additional, Durán, Mercedes, additional, Tejada, Maria-Isabel, additional, Godino, Javier, additional, Benitez, Javier, additional, Hamann, Ute, additional, Kriege, Mieke, additional, Hoogerbrugge, Nicoline, additional, van der Luijt, Rob B., additional, Asperen, Christi J. van, additional, Devilee, Peter, additional, Meijers-Heijboer, E.J., additional, Blok, Marinus J., additional, Aalfs, Cora M., additional, Hogervorst, Frans, additional, Rookus, Matti, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Conroy, Don, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Pichert, Gabriella, additional, Davidson, Rosemarie, additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Porteous, Mary E., additional, Walker, Lisa, additional, Kennedy, M. John, additional, Dorkins, Huw, additional, Peock, Susan, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, de Pauw, Antoine, additional, Mazoyer, Sylvie, additional, Bonadona, Valérie, additional, Lasset, Christine, additional, Dreyfus, Hélène, additional, Leroux, Dominique, additional, Hardouin, Agnès, additional, Berthet, Pascaline, additional, Faivre, Laurence, additional, Loustalot, Catherine, additional, Noguchi, Tetsuro, additional, Sobol, Hagay, additional, Rouleau, Etienne, additional, Nogues, Catherine, additional, Frénay, Marc, additional, Vénat-Bouvet, Laurence, additional, Hopper, John L., additional, Daly, Mary B., additional, Terry, Mary B., additional, John, Esther M., additional, Buys, Saundra S., additional, Yassin, Yosuf, additional, Miron, Alexander, additional, Goldgar, David, additional, Singer, Christian F., additional, Dressler, Anne Catharina, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Hansen, Thomas V.O., additional, Jønson, Lars, additional, Agnarsson, Bjarni A., additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Devlin, Vincent, additional, Dutra-Clarke, Ana, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo C., additional, Wakeley, Katie, additional, Boggess, John F., additional, Basil, Jack, additional, Schwartz, Peter E., additional, Blank, Stephanie V., additional, Toland, Amanda Ewart, additional, Montagna, Marco, additional, Casella, Cinzia, additional, Imyanitov, Evgeny, additional, Tihomirova, Laima, additional, Blanco, Ignacio, additional, Lazaro, Conxi, additional, Ramus, Susan J., additional, Sucheston, Lara, additional, Karlan, Beth Y., additional, Gross, Jenny, additional, Schmutzler, Rita, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Lochmann, Magdalena, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Varon-Mateeva, Raymonda, additional, Niederacher, Dieter, additional, Sutter, Christian, additional, Deissler, Helmut, additional, Gadzicki, Dorothea, additional, Preisler-Adams, Sabine, additional, Kast, Karin, additional, Schönbuchner, Ines, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Aittomäki, Kristiina, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Spurdle, Amanda B., additional, Holland, Helene, additional, Chen, Xiaoqing, additional, Platte, Radka, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional
Published: 2010
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11. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Author: Bojesen, Stig E, Pooley, Karen A, Johnatty, Sharon E, Beesley, Jonathan, Michailidou, Kyriaki, Tyrer, Jonathan P, Edwards, Stacey L, Pickett, Hilda A, Shen, Howard C, Smart, Chanel E, Hillman, Kristine M, Mai, Phuong L, Lawrenson, Kate, Stutz, Michael D, Lu, Yi, Karevan, Rod, Woods, Nicholas, Johnston, Rebecca L, French, Juliet D, Chen, Xiaoqing, Weischer, Maren, Nielsen, Sune F, Maranian, Melanie J, Ghoussaini, Maya, Ahmed, Shahana, Baynes, Caroline, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Lush, Michael, Tessier, Daniel C, Vincent, Daniel, Bacot, Françis, Vergote, Ignace, Lambrechts, Sandrina, Despierre, Evelyn, Risch, Harvey A, González-Neira, Anna, Rossing, Mary Anne, Pita, Guillermo, Doherty, Jennifer A, Álvarez, Nuria, Larson, Melissa C, Fridley, Brooke L, Schoof, Nils, Chang-Claude, Jenny, Cicek, Mine S, Peto, Julian, Kalli, Kimberly R, Broeks, Annegien, Armasu, Sebastian M, Schmidt, Marjanka K, Braaf, Linde M, Winterhoff, Boris, Nevanlinna, Heli, Konecny, Gottfried E, Lambrechts, Diether, Rogmann, Lisa, Guénel, Pascal, Teoman, Attila, Milne, Roger L, Garcia, Joaquin J, Cox, Angela, Shridhar, Vijayalakshmi, Burwinkel, Barbara, Marme, Frederik, Hein, Rebecca, Sawyer, Elinor J, Haiman, Christopher A, Wang-Gohrke, Shan, Andrulis, Irene L, Moysich, Kirsten B, Hopper, John L, Odunsi, Kunle, Lindblom, Annika, Giles, Graham G, Brenner, Hermann, Simard, Jacques, Lurie, Galina, Fasching, Peter A, Carney, Michael E, Radice, Paolo, Wilkens, Lynne R, Swerdlow, Anthony, Goodman, Marc T, Brauch, Hiltrud, Garcia-Closas, Montserrat, Hillemanns, Peter, Winqvist, Robert, Dürst, Matthias, Devilee, Peter, Runnebaum, Ingo, Jakubowska, Anna, Lubinski, Jan, Mannermaa, Arto, Butzow, Ralf, Bogdanova, Natalia V, Dörk, Thilo, Pelttari, Liisa M, Zheng, Wei, Leminen, Arto, Anton-Culver, Hoda, Bunker, Clareann H, Kristensen, Vessela, Ness, Roberta B, Muir, Kenneth, Edwards, Robert, Meindl, Alfons, Heitz, Florian, Matsuo, Keitaro, du Bois, Andreas, Wu, Anna H, Harter, Philipp, Teo, Soo-Hwang, Schwaab, Ira, Shu, Xiao-Ou, Blot, William, Hosono, Satoyo, Kang, Daehee, Nakanishi, Toru, Hartman, Mikael, Yatabe, Yasushi, Hamann, Ute, Karlan, Beth Y, Sangrajrang, Suleeporn, Kjaer, Susanne Krüger, Gaborieau, Valerie, Jensen, Allan, Eccles, Diana, Høgdall, Estrid, Shen, Chen-Yang, Brown, Judith, Woo, Yin Ling, Shah, Mitul, Azmi, Mat Adenan Noor, Luben, Robert, Omar, Siti Zawiah, Czene, Kamila, Vierkant, Robert A, Nordestgaard, Børge G, Flyger, Henrik, Vachon, Celine, Olson, Janet E, Wang, Xianshu, Levine, Douglas A, Rudolph, Anja, Weber, Rachel Palmieri, Flesch-Janys, Dieter, Iversen, Edwin, Nickels, Stefan, Schildkraut, Joellen M, Silva, Isabel Dos Santos, Cramer, Daniel William, Gibson, Lorna, Terry, Kathryn Lynne, Fletcher, Olivia, Vitonis, Allison F, van der Schoot, C Ellen, Poole, Elizabeth M., Hogervorst, Frans B L, Tworoger, Shelley Slate, Liu, Jianjun, Bandera, Elisa V, Li, Jingmei, Olson, Sara H, Humphreys, Keith, Orlow, Irene, Blomqvist, Carl, Rodriguez-Rodriguez, Lorna, Aittomäki, Kristiina, Salvesen, Helga B, Muranen, Taru A, Wik, Elisabeth, Brouwers, Barbara, Krakstad, Camilla, Wauters, Els, Halle, Mari K, Wildiers, Hans, Kiemeney, Lambertus A, Mulot, Claire, Aben, Katja K, Laurent-Puig, Pierre, Altena, Anne Mvan, Truong, Thérèse, Massuger, Leon F A G, Benitez, Javier, Pejovic, Tanja, Perez, Jose Ignacio Arias, Hoatlin, Maureen, Zamora, M Pilar, Cook, Linda S, Balasubramanian, Sabapathy P, Kelemen, Linda E, Schneeweiss, Andreas, Le, Nhu D, Sohn, Christof, Brooks-Wilson, Angela, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Cybulski, Cezary, Henderson, Brian E, Menkiszak, Janusz, Schumacher, Fredrick, Wentzensen, Nicolas, Le Marchand, Loic, Yang, Hannah P, Mulligan, Anna Marie, Glendon, Gord, Engelholm, Svend Aage, Knight, Julia A, Høgdall, Claus K, Apicella, Carmel, Gore, Martin, Tsimiklis, Helen, Song, Honglin, Southey, Melissa C, Jager, Agnes, den Ouweland, Ans M Wvan, Brown, Robert, Martens, John W M, Flanagan, James M, Kriege, Mieke, Paul, James, Margolin, Sara, Siddiqui, Nadeem, Severi, Gianluca, Whittemore, Alice S, Baglietto, Laura, McGuire, Valerie, Stegmaier, Christa, Sieh, Weiva, Müller, Heiko, Arndt, Volker, Labrèche, France, Gao, Yu-Tang, Goldberg, Mark S, Yang, Gong, Dumont, Martine, McLaughlin, John R, Hartmann, Arndt, Ekici, Arif B, Beckmann, Matthias W, Phelan, Catherine M, Lux, Michael P, Permuth-Wey, Jenny, Peissel, Bernard, Sellers, Thomas A, Ficarazzi, Filomena, Barile, Monica, Ziogas, Argyrios, Ashworth, Alan, Gentry-Maharaj, Aleksandra, Jones, Michael, Ramus, Susan J, Orr, Nick, Menon, Usha, Pearce, Celeste L, Brüning, Thomas, Pike, Malcolm C, Ko, Yon-Dschun, Lissowska, Jolanta, Figueroa, Jonine, Kupryjanczyk, Jolanta, Chanock, Stephen J, Dansonka-Mieszkowska, Agnieszka, Jukkola-Vuorinen, Arja, Rzepecka, Iwona K, Pylkäs, Katri, Bidzinski, Mariusz, Kauppila, Saila, Hollestelle, Antoinette, Seynaeve, Caroline, Tollenaar, Rob A E M, Durda, Katarzyna, Jaworska, Katarzyna, Hartikainen, Jaana M, Kosma, Veli-Matti, Kataja, Vesa, Antonenkova, Natalia N, Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Lophatananon, Artitaya, Siriwanarangsan, Pornthep, Stewart-Brown, Sarah, Ditsch, Nina, Lichtner, Peter, Schmutzler, Rita K, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Tseng, Chiu-Chen, Stram, Daniel O, van den Berg, David, Yip, Cheng Har, Ikram, M Kamran, Teh, Yew-Ching, Cai, Hui, Lu, Wei, Signorello, Lisa B, Cai, Qiuyin, Noh, Dong-Young, Yoo, Keun-Young, Miao, Hui, Iau, Philip Tsau-Choong, Teo, Yik Ying, McKay, James, Shapiro, Charles, Ademuyiwa, Foluso, Fountzilas, George, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Hou, Ming-Feng, Healey, Catherine S, Luccarini, Craig, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Rebbeck, Timothy R, Piedmonte, Marion, Singer, Christian F, Friedman, Eitan, Thomassen, Mads, Offit, Kenneth, Hansen, Thomas V O, Neuhausen, Susan L, Szabo, Csilla I, Blanco, Ignacio, Garber, Judy Ellen, Narod, Steven A, Weitzel, Jeffrey N, Montagna, Marco, Olah, Edith, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Imyanitov, Evgeny N, Tihomirova, Laima, Arun, Banu K, Campbell, Ian, Mensenkamp, Arjen R, van Asperen, Christi J, van Roozendaal, Kees E P, Meijers-Heijboer, Hanne, Collée, J Margriet, Oosterwijk, Jan C, Hooning, Maartje J, Rookus, Matti A, van der Luijt, Rob B, Os, Theo A Mvan, Evans, D Gareth, Frost, Debra, Fineberg, Elena, Barwell, Julian, Walker, Lisa, Kennedy, M John, Platte, Radka, Davidson, Rosemarie, Ellis, Steve D, Cole, Trevor, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Damiola, Francesca, Faivre, Laurence, Frenay, Marc, Sinilnikova, Olga M, Caron, Olivier, Giraud, Sophie, Mazoyer, Sylvie, Bonadona, Valérie, Caux-Moncoutier, Virginie, Toloczko-Grabarek, Aleksandra, Gronwald, Jacek, Byrski, Tomasz, Spurdle, Amanda B, Bonanni, Bernardo, Zaffaroni, Daniela, Giannini, Giuseppe, Bernard, Loris, Dolcetti, Riccardo, Manoukian, Siranoush, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Rhiem, Kerstin, Niederacher, Dieter, Plendl, Hansjoerg, Sutter, Christian, Wappenschmidt, Barbara, Borg, Åke, Melin, Beatrice, Rantala, Johanna, Soller, Maria, Nathanson, Katherine L, Domchek, Susan M, Rodriguez, Gustavo C, Salani, Ritu, Kaulich, Daphne Gschwantler, Tea, Muy-Kheng, Paluch, Shani Shimon, Laitman, Yael, Skytte, Anne-Bine, Kruse, Torben A, Jensen, Uffe Birk, Robson, Mark, Gerdes, Anne-Marie, Ejlertsen, Bent, Foretova, Lenka, Savage, Sharon A, Lester, Jenny, Soucy, Penny, Kuchenbaecker, Karoline B, Olswold, Curtis, Cunningham, Julie M, Slager, Susan, Pankratz, Vernon S, Dicks, Ed, Lakhani, Sunil R, Couch, Fergus J, Hall, Per, Monteiro, Alvaro N A, Gayther, Simon A, Pharoah, Paul D P, Reddel, Roger R, Goode, Ellen L, Greene, Mark H, Easton, Douglas F, Berchuck, Andrew, Antoniou, Antonis C, Chenevix-Trench, Georgia, and Dunning, Alison M
Abstract: TERT-locus single nucleotide polymorphisms (SNPs) and leucocyte telomere measures are reportedly associated with risks of multiple cancers. Using the iCOGs chip, we analysed ~480 TERT-locus SNPs in breast (n=103,991), ovarian (n=39,774) and BRCA1 mutation carrier (11,705) cancer cases and controls. 53,724 participants have leucocyte telomere measures. Most associations cluster into three independent peaks. Peak 1 SNP rs2736108 minor allele associates with longer telomeres (P=5.8×10−7), reduced estrogen receptor negative (ER-negative) (P=1.0×10−8) and BRCA1 mutation carrier (P=1.1×10−5) breast cancer risks, and altered promoter-assay signal. Peak 2 SNP rs7705526 minor allele associates with longer telomeres (P=2.3×10−14), increased low malignant potential ovarian cancer risk (P=1.3×10−15) and increased promoter activity. Peak 3 SNPs rs10069690 and rs2242652 minor alleles increase ER-negative (P=1.2×10−12) and BRCA1 mutation carrier (P=1.6×10−14) breast and invasive ovarian (P=1.3×10−11) cancer risks, but not via altered telomere length. The cancer-risk alleles of rs2242652 and rs10069690 respectively increase silencing and generate a truncated TERT splice-variant.
Published: 2013
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12. Common Variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 Are Associated with Breast Cancer Risk for BRCA1 and/or BRCA2 Mutation Carriers

Author: Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Lalloo, Fiona, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra Fert, Mortemousque, Isabelle, Buys, Saundra, Terry, Mary Beth, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne Geschwantler, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, Piedmonte, Marion, Kirk, Judy, Cohn, David, Hurteau, Jean, Byron, John, Fiorica, James, Toland, Amanda E, Montagna, Marco, Oliani, Cristina, Imyanitov, Evgeny, Isaacs, Claudine, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Teulé, Alex, Valle, J Del, Gayther, Simon A, Odunsi, Kunle, Gross, Jenny, Karlan, Beth Y, Olah, Edith, Teo, Soo-Hwang, Ganz, Patricia A, Beattie, Mary S, Dorfling, Cecelia M, van Rensburg, Elizabeth Jansen, Diez, Orland, Kwong, Ava, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Lespérance, Bernard, Spurdle, Amanda B, Neuhausen, Susan L, Ding, Yuan C, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H, Loud, Jennifer T, Andrulis, Irene L, Ozcelik, Hilmi, Mulligan, Anna Marie, Glendon, Gord, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe B, Skytte, Anne-Bine, Kruse, Torben A, Chenevix-Trench, Georgia, Couch, Fergus J, Simard, Jacques, Easton, Douglas F, Miron, Alexander, Muranen, Taru A, Daly, Mary, Walker, Lisa, Jacobs, Chris, Evans, D Gareth, and Lee, Andrew
Abstract: Introduction: 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 susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers \((per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10^{-4})\). The association was restricted to mutations proven or predicted to lead to absence of protein expression \((HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10^{-5}, P-difference = 0.03)\). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers \((HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10^{-5})\) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
Published: 2012
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13. Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Author: Lecarpentier, Julie, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Lasset, Christine, Fricker, Jean-Pierre, Caron, Olivier, Stoppa-Lyonnet, Dominique, Berthet, Pascaline, Faivre, Laurence, Bonadona, Valérie, Buecher, Bruno, Coupier, Isabelle, Gladieff, Laurence, Gesta, Paul, Eisinger, François, Frénay, Marc, Luporsi, Elisabeth, Lortholary, Alain, and Colas, Chrystelle
Subjects: BREAST cancer, GENETIC mutation, OBSTETRICS, PREGNANCY, DISEASE risk factors
Abstract: Introduction: Mutations in BRCA1 and BRCA2 confer a high risk of breast cancer (BC), but the magnitude of this risk seems to vary according to the study and various factors. Although controversial, there are data to support the hypothesis of allelic risk heterogeneity.Methods: We assessed variation in BC risk according to factors related to pregnancies by location of mutation in the homogeneous risk region of BRCA1 and BRCA2 in 990 women in the French study GENEPSO by using a weighted Cox regression model.Results: Our results confirm the existence of the protective effect of an increasing number of full-term pregnancies (FTPs) toward BC among BRCA1 and BRCA2 mutation carriers (≥3 versus 0 FTPs: hazard ratio (HR) = 0.51, 95% confidence interval (CI) = 0.33 to 0.81). Additionally, the HR shows an association between incomplete pregnancies and a higher BC risk, which reached 2.39 (95% CI = 1.28 to 4.45) among women who had at least three incomplete pregnancies when compared with women with zero incomplete pregnancies. This increased risk appeared to be restricted to incomplete pregnancies occurring before the first FTP (HR = 1.77, 95% CI = 1.19 to 2.63). We defined the TMAP score (defined as the Time of Breast Mitotic Activity during Pregnancies) to take into account simultaneously the opposite effect of full-term and interrupted pregnancies. Compared with women with a TMAP score of less than 0.35, an increasing TMAP score was associated with a statistically significant increase in the risk of BC (P trend = 0.02) which reached 1.97 (95% CI = 1.19 to 3.29) for a TMAP score >0.5 (versus TMAP ≤0.35). All these results appeared to be similar in BRCA1 and BRCA2. Nevertheless, our results suggest a variation in BC risk associated with parity according to the location of the mutation in BRCA1. Indeed, parity seems to be associated with a significantly decreased risk of BC only among women with a mutation in the central region of BRCA1 (low-risk region) (≥1 versus 0 FTP: HR = 0.27, 95% CI = 0.13 to 0.55) (Pinteraction <10-3).Conclusions: Our findings show that, taking into account environmental and lifestyle modifiers, mutation position might be important for the clinical management of BRCA1 and BRCA2 mutation carriers and could also be helpful in understanding how BRCA1 and BRCA2 genes are involved in BC. [ABSTRACT FROM AUTHOR]
Published: 2012
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14. The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

Author: Lesueur F, de Lichy M, Barrois M, Durand G, Bombled J, Avril MF, Chompret A, Boitier F, Lenoir GM, Bressac-de Paillerets B, Baccard M, Bachollet B, Berthet P, Bonadona V, Bonnetblanc JM, Caron O, Chevrant-Breton J, Cuny JF, Dalle S, Delaunay M, Demange L, De Quatrebarbes J, Doré JF, Frénay M, Fricker JP, Gauthier-Villars M, Gesta P, Giraud S, Gorry P, Grange F, Green A, Huiart L, Janin N, Joly P, Kérob D, Lasset C, Leroux D, Limacher JM, Longy M, Mansard S, Marrou K, Martin-Denavit T, Mateus C, Maubec E, Olivier-Faivre L, Orlandini V, Pujol P, Sassolas B, Stoppa-Lyonnet D, Thomas L, Vabres P, Venat L, Wierzbicka E, and Zattara H
Subjects: Aged, Aged, 80 and over, Base Sequence, Carrier Proteins genetics, Chromosomes, Human, Pair 9, Cyclin-Dependent Kinase Inhibitor p16 genetics, Exons, Female, Gene Deletion, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree, Point Mutation, Reverse Transcriptase Polymerase Chain Reaction, Tumor Suppressor Protein p14ARF genetics, Genes, p16, Melanoma genetics
Abstract: Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which encodes two unrelated proteins, p16(INK4a) and p14(ARF). Rare mutations in CDK4 have also been linked to the disease. Although the CDKN2A gene has been shown to be the major melanoma predisposing gene, there remains a significant proportion of melanoma kindreds linked to 9p21 in which germline mutations of CDKN2A have not been identified through direct exon sequencing. The purpose of this study was to assess the contribution of large rearrangements in CDKN2A to the disease in melanoma-prone families using multiplex ligation-dependent probe amplification. We examined 214 patients from independent pedigrees with at least two CMM cases. All had been tested for CDKN2A and CDK4 point mutation, and 47 were found positive. Among the remaining 167 negative patients, one carried a novel genomic deletion of CDKN2A exon 2. Overall, genomic deletions represented 2.1% of total mutations in this series (1 of 48), confirming that they explain a very small proportion of CMM susceptibility. In addition, we excluded a new gene on 9p21, KLHL9, as being a major CMM gene.
Published: 2008
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14 results on '"Frénay, Marc"'

1. BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

2. Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics

3. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

4. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

5. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

6. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

7. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction

8. Velocity of tumor spontaneous expansion predicts long-term outcomes for diffuse low-grade gliomas

9. Prognostic value of health-related quality-of-life data in predicting survival in patients with anaplastic oligodendrogliomas, from a phase III EORTC brain cancer group study

10. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

11. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

12. Common Variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 Are Associated with Breast Cancer Risk for BRCA1 and/or BRCA2 Mutation Carriers

13. Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

14. The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

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