A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Creators: name: Coignard, Juliette
name: Lush, Michael
name: Beesley, Jonathan
name: O’Mara, Tracy A.
name: Dennis, Joe
name: Tyrer, Jonathan P.
name: Barnes, Daniel R.
name: McGuffog, Lesley
name: Leslie, Goska
name: Bolla, Manjeet K.
name: Adank, Muriel A.
name: Agata, Simona
name: Ahearn, Thomas
name: Aittomäki, Kristiina
name: Andrulis, Irene L.
name: Anton-Culver, Hoda
name: Arndt, Volker
name: Arnold, Norbert
name: Aronson, Kristan J.
name: Arun, Banu K.
name: Augustinsson, Annelie
name: Azzollini, Jacopo
name: Barrowdale, Daniel
name: Baynes, Caroline
name: Becher, Heiko
name: Bermisheva, Marina
name: Bernstein, Leslie
name: Białkowska, Katarzyna
name: Blomqvist, Carl
name: Bojesen, Stig E.
name: Bonanni, Bernardo
name: Borg, Ake
name: Brauch, Hiltrud
name: Brenner, Hermann
name: Burwinkel, Barbara
name: Buys, Saundra S.
name: Caldés, Trinidad
name: Caligo, Maria A.
name: Campa, Daniele
name: Carter, Brian D.
name: Castelao, Jose E.
name: Chang-Claude, Jenny
name: Chanock, Stephen J.
name: Chung, Wendy K.
name: Claes, Kathleen B. M.
name: Clarke, Christine L.
name: Conroy, Don M.
name: Czene, Kamila
name: Daly, Mary B.
name: Devilee, Peter
name: Diez, Orland
name: Ding, Yuan Chun
name: Domchek, Susan M.
name: Dörk, Thilo
name: Dos-Santos-Silva, Isabel
name: Dunning, Alison M.
name: Dwek, Miriam
name: Eccles, Diana M.
name: Eliassen, A. Heather
name: Engel, Christoph
name: Eriksson, Mikael
name: Evans, D. Gareth
name: Fasching, Peter A.
name: Flyger, Henrik
name: Fostira, Florentia
name: Friedman, Eitan
name: Fritschi, Lin
name: Frost, Debra
name: Gago-Dominguez, Manuela
name: Gapstur, Susan M.
name: Garber, Judy
name: Garcia-Barberan, Vanesa
name: García-Closas, Montserrat
name: García-Sáenz, José A.
name: Gaudet, Mia M.
name: Gayther, Simon A.
name: Gehrig, Andrea
name: Georgoulias, Vassilios
name: Giles, Graham G.
name: Godwin, Andrew K.
name: Goldberg, Mark S.
name: Goldgar, David E.
name: González-Neira, Anna
name: Greene, Mark H.
name: Guénel, Pascal
name: Haeberle, Lothar
name: Hahnen, Eric
name: Haiman, Christopher A.
name: Håkansson, Niclas
name: Hall, Per
name: Hamann, Ute
name: Harrington, Patricia A.
name: Hart, Steven N.
name: He, Wei
name: Hogervorst, Frans B. L.
name: Hollestelle, Antoinette
name: Hopper, John L.
name: Horcasitas, Darling J.
name: Hulick, Peter J.
name: Hunter, David J.
name: Imyanitov, Evgeny N.
name: Jager, Agnes
name: Jakubowska, Anna
name: James, Paul A.
name: Jensen, Uffe Birk
name: John, Esther M.
name: Jones, Michael E.
name: Kaaks, Rudolf
name: Kapoor, Pooja Middha
name: Karlan, Beth Y.
name: Keeman, Renske
name: Khusnutdinova, Elza
name: Kiiski, Johanna I.
name: Ko, Yon-Dschun
name: Kosma, Veli-Matti
name: Kraft, Peter
name: Kurian, Allison W.
name: Laitman, Yael
name: Lambrechts, Diether
name: Le Marchand, Loic
name: Lester, Jenny
name: Lesueur, Fabienne
name: Lindstrom, Tricia
name: Lopez-Fernández, Adria
name: Loud, Jennifer T.
name: Luccarini, Craig
name: Mannermaa, Arto
name: Manoukian, Siranoush
name: Margolin, Sara
name: Martens, John W. M.
name: Mebirouk, Noura
name: Meindl, Alfons
name: Miller, Austin
name: Milne, Roger L.
name: Montagna, Marco
name: Nathanson, Katherine L.
name: Neuhausen, Susan L.
name: Nevanlinna, Heli
name: Nielsen, Finn C.
name: O’Brien, Katie M.
name: Olopade, Olufunmilayo I.
name: Olson, Janet E.
name: Olsson, Håkan
name: Osorio, Ana
name: Ottini, Laura
name: Park-Simon, Tjoung-Won
name: Parsons, Michael T.
name: Pedersen, Inge Sokilde
name: Peshkin, Beth
name: Peterlongo, Paolo
name: Peto, Julian
name: Pharoah, Paul D. P.
name: Phillips, Kelly-Anne
name: Polley, Eric C.
name: Poppe, Bruce
name: Presneau, Nadege
name: Pujana, Miquel Angel
name: Punie, Kevin
name: Radice, Paolo
name: Rantala, Johanna
name: Rashid, Muhammad U.
name: Rennert, Gad
name: Rennert, Hedy S.
name: Robson, Mark
name: Romero, Atocha
name: Rossing, Maria
name: Saloustros, Emmanouil
name: Sandler, Dale P.
name: Santella, Regina
name: Scheuner, Maren T.
name: Schmidt, Marjanka K.
name: Schmidt, Gunnar
name: Scott, Christopher
name: Sharma, Priyanka
name: Soucy, Penny
name: Southey, Melissa C.
name: Spinelli, John J.
name: Steinsnyder, Zoe
name: Stone, Jennifer
name: Stoppa-Lyonnet, Dominique
name: Swerdlow, Anthony
name: Tamimi, Rulla M.
name: Tapper, William J.
name: Taylor, Jack A.
name: Terry, Mary Beth
name: Teulé, Alex
name: Thull, Darcy L.
name: Tischkowitz, Marc
name: Toland, Amanda E.
name: Torres, Diana
name: Trainer, Alison H.
name: Truong, Thérèse
name: Tung, Nadine
name: Vachon, Celine M.
name: Vega, Ana
name: Vijai, Joseph
name: Wang, Qin
name: Wappenschmidt, Barbara
name: Weinberg, Clarice R.
name: Weitzel, Jeffrey N.
name: Wendt, Camilla
name: Wolk, Alicja
name: Yadav, Siddhartha
name: Yang, Xiaohong R.
name: Yannoukakos, Drakoulis
name: Zheng, Wei
name: Ziogas, Argyrios
name: Zorn, Kristin K.
name: Park, Sue K.
name: Thomassen, Mads
name: Offit, Kenneth
name: Schmutzler, Rita K.
name: Couch, Fergus J.
name: Simard, Jacques
name: Chenevix-Trench, Georgia
name: Easton, Douglas F.
name: Andrieu, Nadine
name: Antoniou, Antonis C.
name: Bertrand, Ophélie
name: Caputo, Sandrine
name: Dupré, Anaïs
name: Le Mentec, Marine
name: Belotti, Muriel
name: Birot, Anne-Marie
name: Buecher, Bruno
name: Fourme, Emmanuelle
name: Gauthier-Villars, Marion
name: Golmard, Lisa
name: Houdayer, Claude
name: Moncoutier, Virginie
name: De Pauw, Antoine
name: Saule, Claire
name: Sinilnikova, Olga
name: Mazoyer, Sylvie
name: Damiola, Francesca
name: Barjhoux, Laure
name: Verny-Pierre, Carole
name: Léone, Mélanie
name: Boutry-Kryza, Nadia
name: Calender, Alain
name: Giraud, Sophie
name: Caron, Olivier
name: Guillaud-Bataille, Marine
name: Bressac-De-Paillerets, Brigitte
name: Bignon, Yves- Jean
name: Uhrhammer, Nancy
name: Lasset, Christine
name: Bonadona, Valérie
name: Berthet, Pascaline
name: Vaur, Dominique
name: Castera, Laurent
name: Noguchi, Tetsuro
name: Popovici, Cornel
name: Sobol, Hagay
name: Bourdon, Violaine
name: Remenieras, Audrey
name: Noguès, Catherine
name: Coupier, Isabelle
name: Pujol, Pascal
name: Dumont, Aurélie
name: Révillion, Françoise
name: Adenis, Claude
name: Muller, Danièle
name: Barouk-Simonet, Emmanuelle
name: Bonnet, Françoise
name: Bubien, Virginie
name: Sevenet, Nicolas
name: Longy, Michel
name: Toulas, Christine
name: Guimbaud, Rosine
name: Gladieff, Laurence
name: Feillel, Viviane
name: Leroux, Dominique
name: Dreyfus, Hélène
name: Rebischung, Christine
name: Peysselon, Magalie
name: Coron, Fanny
name: Faivre, Laurence
name: Baurand, Amandine
name: Jacquot, Caroline
name: Bertolone, Geoffrey
name: Lizard, Sarab
name: Prieur, Fabienne
name: Lebrun, Marine
name: Kientz, Caroline
name: Ferrer, Sandra Fert
name: Mari, Véronique
name: Vénat-Bouvet, Laurence
name: Delnatte, Capucine
name: Bézieau, Stéphane
name: Mortemousque, Isabelle
name: Coulet, Florence
name: Colas, Chrystelle
name: Soubrier, Florent
name: Warcoin, Mathilde
name: Sokolowska, Johanna
name: Bronner, Myriam
name: Collonge-Rame, Marie-Agnès
name: Damette, Alexandre
name: Gesta, Paul
name: Lallaoui, Hakima
name: Chiesa, Jean
name: Molina-Gomes, Denise
name: Ingster, Olivier
name: Gregory, Helen
name: Miedzybrodzka, Zosia
name: Morrison, Patrick J.
name: Ong, Kai-Ren
name: Donaldson, Alan
name: Rogers, Mark T.
name: Kennedy, M. John
name: Porteous, Mary E.
name: Brewer, Carole
name: Davidson, Rosemarie
name: Izatt, Louise
name: Brady, Angela
name: Barwell, Julian
name: Adlard, Julian
name: Foo, Claire
name: Lalloo, Fiona
name: Side, Lucy E.
name: Eason, Jacqueline
name: Henderson, Alex
name: Walker, Lisa
name: Eeles, Rosalind A.
name: Cook, Jackie
name: Snape, Katie
name: Eccles, Diana
name: Murray, Alex
name: McCann, Emma
name: Fox, Stephen
name: Campbell, Ian
name: Spurdle, Amanda
name: Webb, Penny
name: De Fazio, Anna
name: Tassell, Margaret
name: Kirk, Judy
name: Lindeman, Geoff
name: Price, Melanie
name: Southey, Melissa
name: Milne, Roger
name: Deb, Sid
name: Bowtell, David
name: Van Der Hout, Annemieke H.
name: Van Den Ouweland, Ans M. W.
name: Mensenkamp, Arjen R.
name: Van Deurzen, Carolien H. M.
name: Kets, Carolien M.
name: Seynaeve, Caroline
name: Van Asperen, Christi J.
name: Aalfs, Cora M.
name: Gómez Garcia, Encarna B.
name: Van Leeuwen, Flora E.
name: De Bock, G. H.
name: Meijers-Heijboer, Hanne E. J.
name: Obdeijn, Inge M.
name: Collée, J. Margriet
name: Gille, J. J. P.
name: Oosterwijk, Jan C.
name: Wijnen, Juul T.
name: Van Der Kolk, Lizet E.
name: Hooning, Maartje J.
name: Ausems, Margreet G. E. M.
name: Mourits, Marian J. E.
name: Blok, Marinus J.
name: Rookus, Matti A.
name: Van Der Luijt, Rob B.
name: Van Cronenburg, T. C. T. E. F.
name: Van Der Pol, Carmen C.
name: Russell, Nicola S.
name: Siesling, Sabine
name: Overbeek, Lucy
name: Wijnands, R.
name: De Lange, Judith L.
name: Clarke, Christine
name: Graham, Dinny
name: Sachchithananthan, Mythily
name: Marsh, Deborah
name: Scott, Rodney
name: Baxter, Robert
name: Yip, Desmond
name: Carpenter, Jane
name: Davis, Alison
name: Pathmanathan, Nirmala
name: Simpson, Peter
Publisher: name: Apollo - University of Cambridge Repository
Year: 2021
Subjects: Article
/631/67/1347
/631/67/2324
/631/208/68
/692/499
/45/43
/45/61
article

description: 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 &lt; 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.