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Milne RL;Kuchenbaecker KB;Michailidou K;Beesley J;Kar S;Lindström S;Hui S;Lemaçon A;Soucy P;Dennis J;Jiang X;Rostamianfar A;Finucane H;Bolla MK;McGuffog L;Wang Q;Aalfs CM; ;Adams M;Adlard J;Agata S;Ahmed S;Ahsan H;Aittomäki K;Al-Ejeh F;Allen J;Ambrosone CB;Amos CI;Andrulis IL;Anton-Culver H;Antonenkova NN;Arndt V;Arnold N;Aronson KJ;Auber B;Auer PL;Ausems MGEM;Azzollini J;Bacot F;Balmańa J;Barile M;Barjhoux L;Barkardottir RB;Barrdahl M;Barnes D;Barrowdale D;Baynes C;Beckmann MW;Benitez J;Bermisheva M;Bernstein L;Bignon YJ;Blazer KR;Blok MJ;Blomqvist C;Blot W;Bobolis K;Boeckx B;Bogdanova NV;Bojesen A;Bojesen SE;Bonanni B;Břrresen-Dale AL;Bozsik A;Bradbury AR;Brand JS;Brauch H;Brenner H;Bressac-de Paillerets B;Brewer C;Brinton L;Broberg P;Brooks-Wilson A;Brunet J;Brüning T;Burwinkel B;Buys SS;Byun J;Cai Q;Caldés T;Caligo MA;Campbell I;Canzian F;Caron O;Carracedo A;Carter BD;Castelao JE;Castera L;Caux-Moncoutier V;Chan SB;Chang-Claude J;Chanock SJ;Chen X;Cheng TD;Chiquette J;Christiansen H;Claes KBM;Clarke CL;Conner T;Conroy DM;Cook J;Cordina-Duverger E;Cornelissen S;Coupier I;Cox A;Cox DG;Cross SS;Cuk K;Cunningham JM;Czene K;Daly MB;Damiola F;Darabi H;Davidson R;De Leeneer K;Devilee P;Dicks E;Diez O;Ding YC;Ditsch N;Doheny KF;Domchek SM;Dorfling CM;Dörk T;Dos-Santos-Silva I;Dubois S;Dugué PA;Dumont M;Dunning AM;Durcan L;Dwek M;Dworniczak B;Eccles D;Eeles R;Ehrencrona H;Eilber U;Ejlertsen B;Ekici AB;Eliassen AH; ;Engel C;Eriksson M;Fachal L;Faivre L;Fasching PA;Faust U;Figueroa J;Flesch-Janys D;Fletcher O;Flyger H;Foulkes WD;Friedman E;Fritschi L;Frost D;Gabrielson M;Gaddam P;Gammon MD;Ganz PA;Gapstur SM;Garber J;Garcia-Barberan V;García-Sáenz JA;Gaudet MM;Gauthier-Villars M;Gehrig A; ;Georgoulias V;Gerdes AM;Giles GG;Glendon G;Godwin AK;Goldberg MS;Goldgar DE;González-Neira A;Goodfellow P;Greene MH;Alnćs GIG;Grip M;Gronwald J;Grundy A;Gschwantler-Kaulich D;Guénel P;Guo Q;Haeberle L;Hahnen E;Haiman CA;Hĺkansson N;Hallberg E;Hamann U;Hamel N;Hankinson S;Hansen TVO;Harrington P;Hart SN;Hartikainen JM;Healey CS; ;Hein A;Helbig S;Henderson A;Heyworth J;Hicks B;Hillemanns P;Hodgson S;Hogervorst FB;Hollestelle A;Hooning MJ;Hoover B;Hopper JL;Hu C;Huang G;Hulick PJ;Humphreys K;Hunter DJ;Imyanitov EN;Isaacs C;Iwasaki M;Izatt L;Jakubowska A;James P;Janavicius R;Janni W;Jensen UB;John EM;Johnson N;Jones K;Jones M;Jukkola-Vuorinen A;Kaaks R;Kabisch M;Kaczmarek K;Kang D;Kast K; ;Keeman R;Kerin MJ;Kets CM;Keupers M;Khan S;Khusnutdinova E;Kiiski JI;Kim SW;Knight JA;Konstantopoulou I;Kosma VM;Kristensen VN;Kruse TA;Kwong A;Lćnkholm AV;Laitman Y;Lalloo F;Lambrechts D;Landsman K;Lasset C;Lazaro C;Le Marchand L;Lecarpentier J;Lee A;Lee E;Lee JW;Lee MH;Lejbkowicz F;Lesueur F;Li J;Lilyquist J;Lincoln A;Lindblom A;Lissowska J;Lo WY;Loibl S;Long J;Loud JT;Lubinski J;Luccarini C;Lush M;MacInnis RJ;Maishman T;Makalic E;Kostovska IM;Malone KE;Manoukian S;Manson JE;Margolin S;Martens JWM;Martinez ME;Matsuo K;Mavroudis D;Mazoyer S;McLean C;Meijers-Heijboer H;Menéndez P;Meyer J;Miao H;Miller A;Miller N;Mitchell G;Montagna M;Muir K;Mulligan AM;Mulot C;Nadesan S;Nathanson KL; ;Neuhausen SL;Nevanlinna H;Nevelsteen I;Niederacher D;Nielsen SF;Nordestgaard BG;Norman A;Nussbaum RL;Olah E;Olopade OI;Olson JE;Olswold C;Ong KR;Oosterwijk JC;Orr N;Osorio A;Pankratz VS;Papi L;Park-Simon TW;Paulsson-Karlsson Y;Lloyd R;Pedersen IS;Peissel B;Peixoto A;Perez JIA;Peterlongo P;Peto J;Pfeiler G;Phelan CM;Pinchev M;Plaseska-Karanfilska D;Poppe B;Porteous ME;Prentice R;Presneau N;Prokofi
2017
December
Nature Genetics
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
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49
12
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
1546-1718
10.1038/ng.3785
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