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Title: Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Authors: Antoniou AC,  Kartsonaki C,  Sinilnikova OM,  Soucy P,  McGuffog L,  Healey S,  Lee A,  Peterlongo P,  Manoukian S,  Peissel B,  Zaffaroni D,  Cattaneo E,  Barile M,  Pensotti V,  Pasini B,  Dolcetti R,  Giannini G,  Putignano AL,  Varesco L,  Radice P,  Mai PL,  Greene MH,  Andrulis IL,  Glendon G,  Ozcelik H,  Thomassen M,  Gerdes AM,  Kruse TA,  Birk Jensen U,  Crüger DG,  Caligo MA,  Laitman Y,  Milgrom R,  Kaufman B,  Paluch-Shimon S,  Friedman E,  Loman N,  Harbst K,  Lindblom A,  Arver B,  Ehrencrona H,  Melin B,  SWE-BRCA,  Nathanson KL,  Domchek SM,  Rebbeck T,  Jakubowska A,  Lubinski J,  Gronwald J,  Huzarski T,  Byrski T,  Cybulski C,  Gorski B,  Osorio A,  Ramón y Cajal T,  Fostira F,  Andrés R,  Benitez J,  Hamann U,  Hogervorst FB,  Rookus MA,  Hooning MJ,  Nelen MR,  van der Luijt RB,  van Os TA,  van Asperen CJ,  Devilee P,  Meijers-Heijboer HE,  Gómez Garcia EB,  HEBON,  Peock S,  Cook M,  Frost D,  Platte R,  Leyland J,  Evans DG,  Lalloo F,  Eeles R,  Izatt L,  Adlard J,  Davidson R,  Eccles D,  Ong KR,  Cook J,  Douglas F,  Paterson J,  Kennedy MJ,  Miedzybrodzka Z,  EMBRACE,  Godwin A,  Stoppa-Lyonnet D,  Buecher B,  Belotti M,  Tirapo C,  Mazoyer S,  Barjhoux L,  Lasset C,  Leroux D,  Faivre L,  Bronner M,  Prieur F,  Nogues C,  Rouleau E,  Pujol P,  Coupier I,  Frénay M,  CEMO Study Collaborators,  Hopper JL,  Daly MB,  Terry MB,  John EM,  Buys SS,  Yassin Y,  Miron A,  Goldgar D,  Breast Cancer Family Registry,  Singer CF,  Tea MK,  Pfeiler G,  Dressler AC,  Hansen Tv,  Jønson L,  Ejlertsen B,  Barkardottir RB,  Kirchhoff T,  Offit K,  Piedmonte M,  Rodriguez G,  Small L,  Boggess J,  Blank S,  Basil J,  Azodi M,  Toland AE,  Montagna M,  Tognazzo S,  Agata S,  Imyanitov E,  Janavicius R,  Lazaro C,  Blanco I,  Pharoah PD,  Sucheston L,  Karlan BY,  Walsh CS,  Olah E,  Bozsik A,  Teo SH,  Seldon JL,  Beattie MS,  van Rensburg EJ,  Sluiter MD,  Diez O,  Schmutzler RK,  Wappenschmidt B,  Engel C,  Meindl A,  Ruehl I,  Varon-Mateeva R,  Kast K,  Deissler H,  Niederacher D,  Arnold N,  Gadzicki D,  Schönbuchner I,  Caldes T,  de la Hoya M,  Nevanlinna H,  Aittomäki K,  Dumont M,  Chiquette J,  Tischkowitz M,  Chen X,  Beesley J,  Spurdle AB,  kConFab investigators,  Neuhausen SL,  Chun Ding Y,  Fredericksen Z,  Wang X,  Pankratz VS,  Couch F,  Simard J,  Easton DF,  Chenevix-Trench G,  CIMBA,  Peock S,  Cook M,  Frost D,  Platte R,  Leyland J,  Miedzybrodzka Z,  Gregory H,  Morrison P,  Jeffers L,  Cole T,  McKeown C,  Ong KR,  Hoffman J,  Donaldson A,  Paterson J,  Downing S,  Taylor A,  Murray A,  Rogers MT,  McCann E,  John Kennedy M,  Barton D,  East S,  Porteous M,  Drummond S,  Brewer C,  Kivuva E,  Searle A,  Goodman S,  Hill K,  Davidson R,  Murday V,  Bradshaw N,  Snadden L,  Longmuir M,  Watt C,  Gibson S,  Haque E,  Tobias E,  Duncan A,  Izatt L,  Jacobs C,  Langman C,  Whaite A,  Dorkins H,  Barwell J,  Adlard J,  Chu C,  Miller J,  Ellis I,  Gareth Evans D,  Lalloo F,  Taylor J,  Thames NE,  Side L,  Male A,  Berlin C,  Eason J,  Collier R,  Douglas F,  Claber O,  Jobson I,  Walker L,  McLeod D,  Halliday D,  Durell S,  Stayner B,  Eeles R,  Shanley S,  Rahman N,  Houlston R,  Bancroft E,  D'Mello L,  Page E,  Ardern-Jones A,  Kohut K,  Wiggins J,  Castro E,  Mitra A,  Robertson L,  Cook J,  Quarrell O,  Bardsley C,  Hodgson S,  Goff S,  Brice G,  Winchester L,  Eddy C,  Tripathi V,  Attard V,  Eccles D,  Lucassen A,  Crawford G,  McBride D,  Smalley S,  Sutter C,  Preisler-Adams S,  Fiebig B,  Heinritz W,  Schäfer D,  Köhler J,  Bérard L,  Sinilnikova O,  Barjhoux L,  Verny-Pierre C,  Giraud S,  Léone M,  Mazoyer S,  Stoppa-Lyonnet D,  Gauthier-Villars M,  Buecher B,  Houdayer C,  Moncoutier V,  Belotti M,  Tirapo C,  de Pauw A,  Bressac-de-Paillerets B,  Remenieras A,  Byrde V,  Caron O,  Lenoir G,  Bignon YJ,  Uhrhammer N,  Lasset C,  Bonadona V,  Hardouin A,  Berthet P,  Sobol H,  Bourdon V,  Noguchi T,  Eisinger F,  Coulet F,  Colas C,  Soubrier F,  Coupier I,  Pujol P,  Peyrat JP,  Fournier J,  Révillion F,  Vennin P,  Adenis C,  Rouleau E,  Lidereau R,  Demange L,  Nogues C,  Muller D,  Fricker JP,  Longy M,  Sevenet N,  Toulas C,  Guimbaud R,  Gladieff L,  Feillel V,  Leroux D,  Dreyfus H,  Rebischung C,  Coron F,  Faivre L,  Prieur F,  Lebrun M,  Ferrer SF,  Frénay M,  Vénat-Bouvet L,  Delnatte C,  Mortemousque I,  Lynch HT,  Snyder CL,  Hogervorst FB,  Verhoef S,  Verheus M,  van 't Veer LJ,  van Leeuwen FE,  Rookus MA,  Collée M,  van den Ouweland AM,  Jager A,  Hooning MJ,  Tilanus-LinthorsT MM,  Seynaeve C,  van AspereN CJ,  Wijnen JT,  Vreeswijk MP,  Tollenaar RA,  Devilee P,  Ligtenberg MJ,  Hoogerbrugge N,  Ausems MG,  van der Luijt RB,  Aalfs CM,  van Os TA,  Gille JJ,  Waisfisz Q,  Meijers-Heijboer HE,  Gomez-Garcia EB,  van Roozendaal CE,  Blok MJ,  Caanen B,  Oosterwijk JC,  van der HouT AH,  Mourits MJ,  Vasen HF,  Karlsson P,  Nordling M,  Bergman A,  Einbeigi Z,  Stenmark-Askmalm M,  Liedgren S,  Borg Å,  Loman N,  Olsson H,  Kristoffersson U,  Jernström H,  Harbst K,  Henriksson K,  Lindblom A,  Arver B,  von Wachenfeldt A,  Liljegren A,  Barbany-Bustinza G,  Rantala J,  Melin B,  Grönberg H,  Stattin EL,  Emanuelsson M,  Ehrencrona H,  Brandell RR,  Dahl N
Journal: Hum Mol Genet
Date: 2011 Aug 15
Branches: CGB
PubMed ID: 21593217
PMC ID: PMC3652640
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.