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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Authors :
Coignard, Juliette
Lush, Michael
Beesley, Jonathan
O’Mara, Tracy A.
Dennis, Joe
Tyrer, Jonathan P.
Barnes, Daniel R.
McGuffog, Lesley
Leslie, Goska
Bolla, Manjeet K.
Adank, Muriel A.
Agata, Simona
Ahearn, Thomas
Aittomäki, Kristiina
Andrulis, Irene L.
Anton-Culver, Hoda
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J.
Arun, Banu K.
Augustinsson, Annelie
Azzollini, Jacopo
Barrowdale, Daniel
Baynes, Caroline
Becher, Heko
Bermisheva, Marina
Bernstein, Leslie
Białkowska, Katarzyna
Blomqvist, Carl
Bojesen, Stig E.
Bonanni, Bernardo
Borg, Ake
Brauch, Hiltrud
Brenner, Hermann
Burwinkel, Barbara
Buys, Saundra S.
Caldés, Trinidad
Caligo, Maria A.
Campa, Daniele
Carter, Brian D.
Castelao, Jose E.
Chang-Claude, Jenny
Chanock, Stephen J.
Chung, Wendy K.
Claes, Kathleen B. M.
Clarke, Christine L.
Bertrand, Ophélie
Caputo, Sandrine
Dupré, Anaïs
le Mentec, Marine
Belotti, Muriel
Birot, Anne-Marie
Buecher, Bruno
Fourme, Emmanuelle
Gauthier-Villars, Marion
Golmard, Lisa
Houdayer, Claude
Moncoutier, Virginie
de Pauw, Antoine
Saule, Claire
Sinilnikova, Olga
Mazoyer, Sylvie
Damiola, Francesca
Barjhoux, Laure
Verny-Pierre, Carole
Léone, M. lanie
Boutry-Kryza, Nadia
Calender, Alain
Giraud, Sophie
Caron, Olivier
Guillaud-Bataille, Marine
Bressac-de-Paillerets, Brigitte
Bignon, Yves- Jean
Uhrhammer, Nancy
Lasset, Christine
Bonadona, Valérie
Berthet, Pascaline
Vaur, Dominique
Castera, Laurent
Noguchi, Tetsuro
Popovici, Cornel
Sobol, Hagay
Bourdon, Violaine
Remenieras, Audrey
Noguès, Catherine
Coupier, Isabelle
Pujol, Pascal
Dumont, Aurélie
Révillion, Françoise
Adenis, Claude
Muller, Danièle
Barouk-Simonet, Emmanuelle
Bonnet, Françoise
Bubien, Virginie
Sevenet, Nicolas
Longy, Michel
Toulas, Christine
Guimbaud, Rosine
Gladieff, Laurence
Feillel, Viviane
Leroux, Dominique
Dreyfus, H. lène
Rebischung, Christine
Peysselon, Magalie
Coron, Fanny
Faivre, Laurence
Baurand, Amandine
Jacquot, Caroline
Bertolone, Geoffrey
Lizard, Sarab
Prieur, Fabienne
Lebrun, Marine
Kientz, Caroline
Ferrer, Sandra Fert
Mari, V. ronique
Vénat-Bouvet, Laurence
Delnatte, Capucine
Bézieau, Stéphane
Mortemousque, Isabelle
Coulet, Florence
Colas, Chrystelle
Soubrier, Florent
Warcoin, Mathilde
Sokolowska, Johanna
Bronner, Myriam
Collonge-Rame, Marie-Agnès
Damette, Alexandre
Gesta, Paul
Lallaoui, Hakima
Chiesa, Jean
Molina-Gomes, Denise
Ingster, Olivier
Gregory, Helen
Miedzybrodzka, Zosia
Morrison, Patrick J.
Ong, Kai-ren
Donaldson, Alan
Rogers, Mark T.
Kennedy, M. John
Porteous, Mary E.
Brewer, Carole
Davidson, Rosemarie
Izatt, Louise
Brady, Angela
Barwell, Julian
Adlard, Julian
Foo, Claire
Lalloo, Fiona
Side, Lucy E.
Eason, Jacqueline
Henderson, Alex
Walker, Lisa
Eeles, Rosalind A.
Cook, Jackie
Snape, Katie
Eccles, Diana
Murray, Alex
McCann, Emma
Collée, J. Margriet
Conroy, Don M.
Czene, Kamila
Daly, Mary B.
Devilee, Peter
Diez, Orland
Ding, Yuan Chun
Domchek, Susan M.
Dörk, Thilo
dos-Santos-Silva, Isabel
Dunning, Alison M.
Dwek, Miriam
Eccles, Diana M.
Eliassen, A. Heather
Engel, Christoph
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter A.
Flyger, Henrik
Fostira, Florentia
Friedman, Eitan
Fritschi, Lin
Frost, Debra
Gago-Dominguez, Manuela
Gapstur, Susan M.
Garber, Judy
Garcia-Barberan, Vanesa
García-Closas, Montserrat
García-Sáenz, José A.
Gaudet, Mia M.
Gayther, Simon A.
Gehrig, Andrea
Georgoulias, Vassilios
Giles, Graham G.
Godwin, Andrew K.
Goldberg, Mark S.
Goldgar, David E.
González-Neira, Anna
Greene, Mark H.
Guénel, Pascal
Haeberle, Lothar
Hahnen, Eric
Haiman, Christopher A.
Håkansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia A.
Hart, Steven N.
He, Wei
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Hopper, John L.
Horcasitas, Darling J.
Hulick, Peter J.
Hunter, David J.
Imyanitov, Evgeny N.
Fox, Stephen
Campbell, Ian
Spurdle, Amanda
Webb, Penny
de Fazio, Anna
Tassell, Margaret
Kirk, Judy
Lindeman, Geoff
Price, Melanie
Southey, Melissa
Milne, Roger
Deb, Sid
Bowtell, David
van der Hout, Annemieke H.
van den Ouweland, Ans M. W.
Mensenkamp, Arjen R.
van Deurzen, Carolien H. M.
Kets, Carolien M.
Seynaeve, Caroline
van Asperen, Christi J.
Aalfs, Cora M.
Gómez Garcia, Encarna B.
van Leeuwen, Flora E.
de Bock, G. H.
Meijers-Heijboer, Hanne E. J.
Obdeijn, Inge M.
Gille, J. J. P.
Oosterwijk, Jan C.
Wijnen, Juul T.
van der Kolk, Lizet E.
Hooning, Maartje J.
Ausems, Margreet G. E. M.
Mourits, Marian J. E.
Blok, Marinus J.
Rookus, Matti A.
van der Luijt, Rob B.
van Cronenburg, T. C. T. E. F.
van der Pol, Carmen C.
Russell, Nicola S.
Siesling, Sabine
Overbeek, Lucy
Wijnands, R.
de Lange, Judith L.
Clarke, Christine
Graham, Dinny
Sachchithananthan, Mythily
Marsh, Deborah
Scott, Rodney
Baxter, Robert
Yip, Desmond
Carpenter, Jane
Davis, Alison
Pathmanathan, Nirmala
Simpson, Peter
Jager, Agnes
Jakubowska, Anna
James, Paul A.
Jensen, Uffe Birk
John, Esther M.
Jones, Michael E.
Kaaks, Rudolf
Kapoor, Pooja Middha
Karlan, Beth Y.
Keeman, Renske
Khusnutdinova, Elza
Kiiski, Johanna I.
Ko, Yon-Dschun
Kosma, Veli-Matti
Kraft, Peter
Kurian, Allison W.
Laitman, Yael
Lambrechts, Diether
le Marchand, Loic
Lester, Jenny
Lesueur, Fabienne
Lindstrom, Tricia
Lopez-Fernández, Adria
Loud, Jennifer T.
Luccarini, Craig
Mannermaa, Arto
Manoukian, Siranoush
Margolin, Sara
Martens, John W. M.
Mebirouk, Noura
Meindl, Alfons
Miller, Austin
Milne, Roger L.
Montagna, Marco
Nathanson, Katherine L.
Neuhausen, Susan L.
Nevanlinna, Heli
Nielsen, Finn C.
O’Brien, Katie M.
Olopade, Olufunmilayo I.
Olson, Janet E.
Olsson, H. kan
Osorio, Ana
Ottini, Laura
Park-Simon, Tjoung-Won
Parsons, Michael T.
Pedersen, Inge Sokilde
Peshkin, Beth
Peterlongo, Paolo
Peto, Julian
Pharoah, Paul D. P.
Phillips, Kelly-Anne
Polley, Eric C.
Poppe, Bruce
Presneau, Nadege
Pujana, Miquel Angel
Punie, Kevin
Radice, Paolo
Rantala, Johanna
Rashid, Muhammad U.
Rennert, Gad
Rennert, Hedy S.
Robson, Mark
Romero, Atocha
Rossing, Maria
Saloustros, Emmanouil
Sandler, Dale P.
Santella, Regina
Scheuner, Maren T.
Schmidt, Marjanka K.
Schmidt, Gunnar
Scott, Christopher
Sharma, Priyanka
Soucy, Penny
Southey, Melissa C.
Spinelli, John J.
Steinsnyder, Zoe
Stone, Jennifer
Stoppa-Lyonnet, Dominique
Swerdlow, Anthony
Tamimi, Rulla M.
Tapper, William J.
Taylor, Jack A.
Terry, Mary Beth
Teulé, Alex
Thull, Darcy L.
Tischkowitz, Marc
Toland, Amanda E.
Torres, Diana
Trainer, Alison H.
Truong, Thérèse
Tung, Nadine
Vachon, Celine M.
Vega, Ana
Vijai, Joseph
Wang, Qin
Wappenschmidt, Barbara
Weinberg, Clarice R.
Weitzel, Jeffrey N.
Wendt, Camilla
Wolk, Alicja
Yadav, Siddhartha
Yang, Xiaohong R.
Yannoukakos, Drakoulis
Zheng, Wei
Ziogas, Argyrios
Zorn, Kristin K.
Park, Sue K.
Thomassen, Mads
Offit, Kenneth
Schmutzler, Rita K.
Couch, Fergus J.
Simard, Jacques
Chenevix-Trench, Georgia
Easton, Douglas F.
Andrieu, Nadine
Antoniou, Antonis C.
German Cancer Research Center
National Health and Medical Research Council (Australia)
United States of Department of Health & Human Services
National Institute for Health Research (Reino Unido)
French National Cancer Institute
Ligue Nationale Contre le Cancer (Francia)
Cancer Research UK (Reino Unido)
Unión Europea. Comisión Europea
Canadian Institutes of Health Research
Cancer Council New South Wales (Australia)
KWF Kankerbestrijding
Instituto de Salud Carlos III
Xunta de Galicia (España)
Ministerio de Sanidad, Política Social e Igualdad (España)
Helmholtz Association
California Breast Cancer Research Program
Federal Ministry of Education & Research (Alemania)
Government of Netherlands
Russian Foundation for Basic Research
O’Mara, Tracy A. [0000-0002-5436-3232]
Dennis, Joe [0000-0003-4591-1214]
Tyrer, Jonathan P. [0000-0003-3724-4757]
Barnes, Daniel R. [0000-0002-3781-7570]
Leslie, Goska [0000-0001-5756-6222]
Ahearn, Thomas [0000-0003-0771-7752]
Andrulis, Irene L. [0000-0002-4226-6435]
Arndt, Volker [0000-0001-9320-8684]
Azzollini, Jacopo [0000-0002-9364-9778]
Barrowdale, Daniel [0000-0003-1661-3939]
Becher, Heko [0000-0002-8808-6667]
Bernstein, Leslie [0000-0002-7692-6518]
Bojesen, Stig E. [0000-0002-4061-4133]
Bonanni, Bernardo [0000-0003-3589-2128]
Brauch, Hiltrud [0000-0001-7531-2736]
Caldés, Trinidad [0000-0002-1038-5392]
Chanock, Stephen J. [0000-0002-2324-3393]
Chung, Wendy K. [0000-0003-3438-5685]
Claes, Kathleen B. M. [0000-0003-0841-7372]
Collée, J. Margriet [0000-0002-9272-9346]
Devilee, Peter [0000-0002-8023-2009]
Dörk, Thilo [0000-0002-9458-0282]
Dunning, Alison M. [0000-0001-6651-7166]
Dwek, Miriam [0000-0001-7184-2932]
Eliassen, A. Heather [0000-0002-3961-6609]
Fritschi, Lin [0000-0002-7692-3560]
García-Closas, Montserrat [0000-0003-1033-2650]
García-Sáenz, José A. [0000-0001-6880-0301]
Gayther, Simon A. [0000-0001-7937-5443]
Giles, Graham G. [0000-0003-4946-9099]
Greene, Mark H. [0000-0003-1852-9239]
Guénel, Pascal [0000-0002-8359-518X]
Håkansson, Niclas [0000-0001-7673-5554]
Hart, Steven N. [0000-0001-7714-2734]
He, Wei [0000-0003-0161-3274]
Hollestelle, Antoinette [0000-0003-1166-1966]
Hulick, Peter J. [0000-0001-8397-4078]
Jakubowska, Anna [0000-0002-5650-0501]
James, Paul A. [0000-0002-4361-4657]
Jensen, Uffe Birk [0000-0002-6205-6355]
Jones, Michael E. [0000-0001-7479-3451]
Kapoor, Pooja Middha [0000-0001-5503-8215]
Keeman, Renske [0000-0002-5452-9933]
Kraft, Peter [0000-0002-4472-8103]
Kurian, Allison W. [0000-0002-6175-9470]
Lambrechts, Diether [0000-0002-3429-302X]
Lesueur, Fabienne [0000-0001-7404-4549]
Martens, John W. M. [0000-0002-3428-3366]
Miller, Austin [0000-0001-9739-8462]
Milne, Roger L. [0000-0001-5764-7268]
Nathanson, Katherine L. [0000-0002-6740-0901]
Nevanlinna, Heli [0000-0002-0916-2976]
Olopade, Olufunmilayo I. [0000-0002-9936-1599]
Olson, Janet E. [0000-0003-4944-7789]
Ottini, Laura [0000-0001-8030-0449]
Parsons, Michael T. [0000-0003-3242-8477]
Pedersen, Inge Sokilde [0000-0002-9902-8040]
Peshkin, Beth [0000-0002-2997-4701]
Peterlongo, Paolo [0000-0001-6951-6855]
Peto, Julian [0000-0002-1685-8912]
Pharoah, Paul D. P. [0000-0001-8494-732X]
Punie, Kevin [0000-0002-1162-7963]
Radice, Paolo [0000-0001-6298-4111]
Rennert, Gad [0000-0002-8512-068X]
Robson, Mark [0000-0002-3109-1692]
Romero, Atocha [0000-0002-1634-7397]
Saloustros, Emmanouil [0000-0002-0485-0120]
Sandler, Dale P. [0000-0002-6776-0018]
Schmidt, Marjanka K. [0000-0002-2228-429X]
Scott, Christopher [0000-0003-1340-0647]
Stone, Jennifer [0000-0001-5077-0124]
Toland, Amanda E. [0000-0002-0271-1792]
Truong, Thérèse [0000-0002-2943-6786]
Vachon, Celine M. [0000-0002-1962-9322]
Vega, Ana [0000-0002-7416-5137]
Vijai, Joseph [0000-0002-7933-151X]
Weitzel, Jeffrey N. [0000-0001-6714-092X]
Wolk, Alicja [0000-0001-7387-6845]
Yadav, Siddhartha [0000-0003-4630-9903]
Yannoukakos, Drakoulis [0000-0001-7509-3510]
Ziogas, Argyrios [0000-0003-4529-3727]
Zorn, Kristin K. [0000-0003-2143-8979]
Park, Sue K. [0000-0001-5002-9707]
Simard, Jacques [0000-0001-6906-3390]
Easton, Douglas F. [0000-0003-2444-3247]
Apollo - University of Cambridge Repository
Becher, Heiko [0000-0002-8808-6667]
RS: GROW - R4 - Reproductive and Perinatal Medicine
MUMC+: DA KG Polikliniek (9)
Klinische Genetica
German Cancer Research Center (DKFZ)
National Health and Medical Research Council of Australia
United States Department of Health & Human Services National Institutes of Health (NIH) - USA
National Institute for Health Research (NIHR)
Institut National du Cancer (INCA) France
Ligue nationale contre le cancer
Cancer Research UK
European Commision
Canadian Institutes of Health Research (CIHR)
Cancer Council New South Wales
Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud
Xunta de Galicia
Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain
Fondo de Investigacion Sanitario
California Breast Cancer Research Fund
Federal Ministry of Education & Research (BMBF)
Netherlands Government
Russian Foundation for Basic Research (RFBR)
O'Mara, Tracy A [0000-0002-5436-3232]
Tyrer, Jonathan P [0000-0003-3724-4757]
Barnes, Daniel R [0000-0002-3781-7570]
Andrulis, Irene L [0000-0002-4226-6435]
Bojesen, Stig E [0000-0002-4061-4133]
Chanock, Stephen J [0000-0002-2324-3393]
Chung, Wendy K [0000-0003-3438-5685]
Claes, Kathleen BM [0000-0003-0841-7372]
Collée, J Margriet [0000-0002-9272-9346]
Dunning, Alison M [0000-0001-6651-7166]
Eliassen, A Heather [0000-0002-3961-6609]
García-Sáenz, José A [0000-0001-6880-0301]
Gayther, Simon A [0000-0001-7937-5443]
Giles, Graham G [0000-0003-4946-9099]
Greene, Mark H [0000-0003-1852-9239]
Hart, Steven N [0000-0001-7714-2734]
Hulick, Peter J [0000-0001-8397-4078]
James, Paul A [0000-0002-4361-4657]
Jones, Michael E [0000-0001-7479-3451]
Kurian, Allison W [0000-0002-6175-9470]
Martens, John WM [0000-0002-3428-3366]
Milne, Roger L [0000-0001-5764-7268]
Nathanson, Katherine L [0000-0002-6740-0901]
Olopade, Olufunmilayo I [0000-0002-9936-1599]
Olson, Janet E [0000-0003-4944-7789]
Parsons, Michael T [0000-0003-3242-8477]
Pharoah, Paul DP [0000-0001-8494-732X]
Sandler, Dale P [0000-0002-6776-0018]
Schmidt, Marjanka K [0000-0002-2228-429X]
Toland, Amanda E [0000-0002-0271-1792]
Vachon, Celine M [0000-0002-1962-9322]
Weitzel, Jeffrey N [0000-0001-6714-092X]
Zorn, Kristin K [0000-0003-2143-8979]
Park, Sue K [0000-0001-5002-9707]
Easton, Douglas F [0000-0003-2444-3247]
HUS Comprehensive Cancer Center
Department of Oncology
Clinicum
INDIVIDRUG - Individualized Drug Therapy
HUS Gynecology and Obstetrics
Department of Obstetrics and Gynecology
Institut Català de la Salut
[Coignard J] Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France. Institut Curie Paris, Paris, France. Mines ParisTech Fontainebleau, Paris, France. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. PSL University Paris, Paris, France. Paris Sud University, Orsay, France. [Lush M, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Beesley J, O'Mara TA] Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Lopez-Fernández A] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE)
Life Course Epidemiology (LCE)
Damage and Repair in Cancer Development and Cancer Treatment (DARE)
Targeted Gynaecologic Oncology (TARGON)
Human Genetics
ARD - Amsterdam Reproduction and Development
Human genetics
Amsterdam Neuroscience - Complex Trait Genetics
CCA - Cancer biology and immunology
Clinical Genetics
Medical Oncology
Pathology
Radiology & Nuclear Medicine
Source :
Nature Communications, 12(1). NATURE RESEARCH, Repisalud, Instituto de Salud Carlos III (ISCIII), Nature Communications, 12(1):1078. Nature Publishing Group, Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Bertrand, O, Caputo, S, Dupré, A, le Mentec, M, Belotti, M, Birot, A-M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M L, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H L, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V R, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M-A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, K, Eccles, D, Murray, A, McCann, E, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, S M, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Fox, S, Campbell, I, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R, Deb, S, Bowtell, D, van der Hout, A H, van den Ouweland, A M W, Mensenkamp, A R, van Deurzen, C H M, Kets, C M, Seynaeve, C, van Asperen, C J, Aalfs, C M, Gómez Garcia, E B, van Leeuwen, F E, de Bock, G H, Meijers-Heijboer, H E J, Obdeijn, I M, Collée, J M, Gille, J J P, Oosterwijk, J C, Wijnen, J T, van der Kolk, L E, Hooning, M J, Ausems, M G E M, Mourits, M J E, Blok, M J, Rookus, M A, Adank, M A, van der Luijt, R B, van Cronenburg, T C T E F, van der Pol, C C, Russell, N S, Siesling, S, Overbeek, L, Wijnands, R, de Lange, J L, Clarke, C, Graham, D, Sachchithananthan, M, Marsh, D, Scott, R, Baxter, R, Yip, D, GEMO Study Collaborators, Carpenter, J, EMBRACE Collaborators, Davis, A, KConFab Investigators, HEBON Investigators, Pathmanathan, N, ABCTB Investigators, Simpson, P, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y-D, Kosma, V-M, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Milne, R L, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’Brien, K M, Olopade, O I, Olson, J E, Olsson, H K, Osorio, A, Ottini, L, Park-Simon, T-W, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K-A, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, M C, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, NATURE COMMUNICATIONS, Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C, Bertrand, O, Caputo, S, Dupré, A, Le Mentec, M, Belotti, M, Birot, A M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K R, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, K, Eccles, D M, Murray, A, McCann, E, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Dwek, M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, S M, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Fox, S, Campbell, I, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R L, Deb, S, Bowtell, D, van der Hout, A H, van den Ouweland, A M W, Mensenkamp, A R, van Deurzen, C H M, Kets, C M, Seynaeve, C, van Asperen, C J, Aalfs, C M, Gómez Garcia, E B, van Leeuwen, F E, de Bock, G H, Meijers-Heijboer, H E J, Obdeijn, I M, Collée, J M, Gille, J J P, Oosterwijk, J C, Wijnen, J T, van der Kolk, L E, Hooning, M J, Ausems, M G E M, Mourits, M J E, Blok, M J, Rookus, M A, Adank, M A, van der Luijt, R B, van Cronenburg, T C T E F, van der Pol, C C, Russell, N S, Siesling, S, Overbeek, L, Wijnands, R, de Lange, J L, Clarke, C, Graham, D, Sachchithananthan, M, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y D, Kosma, V M, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’Brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-Simon, T W, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K A, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N, Antoniou, A C, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, Dipòsit Digital de la UB, Universidad de Barcelona, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021), Scientia, Nature Communications, 12:1078. Nature Publishing Group, Nature communications, 12(1):1078. Nature Publishing Group, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, 12, 1, Coignard, J, Lush, M, Beesley, J, O’mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, Mcguffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, Dos-santos-silva, I, Dunning, A M, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-dominguez, M, Gapstur, S M, Garber, J, Garcia-barberan, V, García-closas, M, García-sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y, Kosma, V, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Milne, R L, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-simon, T, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, M C, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, 12
Publication Year :
2021

Abstract

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P<br />Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Subjects

Subjects :
0301 basic medicine
Linkage disequilibrium
endocrine system diseases
Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES]
45/43
General Physics and Astronomy
Genome-wide association study
Linkage Disequilibrium
Breast cancer
0302 clinical medicine
3123 Gynaecology and paediatrics
Risk Factors
Genotype
breast neoplasms
Medicine and Health Sciences
631/208/68
skin and connective tissue diseases
Cancer genetics
adult
alleles
BRCA1 protein
BRCA2 protein
female
genetic predisposition to disease
genome-wide association study
genotype
humans
linkage disequilibrium
middle aged
mutation
quantitative trait loci
risk factors
polymorphism, single nucleotide
HEBON Investigators
Genetics
neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES]
education.field_of_study
Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]
Multidisciplinary
Otros calificadores::Otros calificadores::/genética [Otros calificadores]
BRCA1 Protein
Genetic Predisposition to Disease/genetics
article
Single Nucleotide
Middle Aged
BRCA2 Protein/genetics
3. Good health
Mama - Càncer - Factors de risc
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Genome-Wide Association Study/methods
Medical genetics
Female
Medical Genetics
692/499
Adult
medicine.medical_specialty
45/61
Science
3122 Cancers
Population
Quantitative Trait Loci
Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES]
ABCTB Investigators
631/67/2324
Breast Neoplasms
Biology
Breast Neoplasms/genetics
Polymorphism, Single Nucleotide
General Biochemistry, Genetics and Molecular Biology
Càncer de mama
GEMO Study Collaborators
03 medical and health sciences
Cancer epidemiology
SDG 3 - Good Health and Well-being
Other subheadings::Other subheadings::/genetics [Other subheadings]
medicine
Humans
Genetic Predisposition to Disease
Allele
Polymorphism
education
EMBRACE Collaborators
fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS]
Alleles
Medicinsk genetik
BRCA2 Protein
Mutació (Biologia)
General Chemistry
631/67/1347
Genotype frequency
030104 developmental biology
Mutation
Mama - Càncer - Aspectes genètics
BRCA1 Protein/genetics
3111 Biomedicine
KConFab Investigators
Quantitative Trait Loci/genetics
Genètica
Genome-Wide Association Study

Details

Language :
English
ISSN :
20411723
Database :
OpenAIRE
Journal :
Nature Communications, 12(1). NATURE RESEARCH, Repisalud, Instituto de Salud Carlos III (ISCIII), Nature Communications, 12(1):1078. Nature Publishing Group, Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Bertrand, O, Caputo, S, Dupré, A, le Mentec, M, Belotti, M, Birot, A-M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M L, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H L, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V R, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M-A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, 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Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, NATURE COMMUNICATIONS, Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C, Bertrand, O, Caputo, S, Dupré, A, Le Mentec, M, Belotti, M, Birot, A M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K R, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, K, Eccles, D M, Murray, A, McCann, E, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Dwek, M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, S M, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Fox, S, Campbell, I, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R L, Deb, S, Bowtell, D, van der Hout, A H, van den Ouweland, A M W, Mensenkamp, A R, van Deurzen, C H M, Kets, C M, Seynaeve, C, van Asperen, C J, Aalfs, C M, Gómez Garcia, E B, van Leeuwen, F E, de Bock, G H, Meijers-Heijboer, H E J, Obdeijn, I M, Collée, J M, Gille, J J P, Oosterwijk, J C, Wijnen, J T, van der Kolk, L E, Hooning, M J, Ausems, M G E M, Mourits, M J E, Blok, M J, Rookus, M A, Adank, M A, van der Luijt, R B, van Cronenburg, T C T E F, van der Pol, C C, Russell, N S, Siesling, S, Overbeek, L, Wijnands, R, de Lange, J L, Clarke, C, Graham, D, Sachchithananthan, M, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y D, Kosma, V M, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’Brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-Simon, T W, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K A, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N, Antoniou, A C, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, Dipòsit Digital de la UB, Universidad de Barcelona, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers 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Nature Publishing Group, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, 12, 1, Coignard, J, Lush, M, Beesley, J, O’mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, Mcguffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, Dos-santos-silva, I, Dunning, A M, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-dominguez, M, Gapstur, S M, Garber, J, Garcia-barberan, V, García-closas, M, García-sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y, Kosma, V, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Milne, R L, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-simon, T, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, M C, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1 . https://doi.org/10.1038/s41467-020-20496-3, Nature Communications, 12
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