Supplement to Genome-wide association study identifies novel breast cancer susceptibility loci TeX Export

@article{Easton2007s, abstract = {Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25\% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77\% of known common SNPs in Europeans at r2 \$>\$ 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P \$<\$ 10E-7). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P \$<\$ 0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach.}, author = {Easton, Douglas F. and Pooley, Karen A. and Dunning, Alison M. and Pharoah, Paul D. P. and Thompson, Deborah and Ballinger, Dennis G. and Struewing, Jeffery P. and Morrison, Jonathan and Field, Helen and Luben, Robert and Wareham, Nicholas and Ahmed, Shahana and Healey, Catherine S. and Bowman, Richard and Meyer, Kerstin B. and Haiman, Christopher A. and Kolonel, Laurence K. and Henderson, Brian E. and Le Marchand, Loic and Brennan, Paul and Sangrajrang, Suleeporn and Gaborieau, Valerie and Odefrey, Fabrice and Shen, Chen Y. and Wu, Pei E. and Wang, Hui C. and Eccles, Diana and Evans, Gareth D. and Peto, Julian and Fletcher, Olivia and Johnson, Nichola and Seal, Sheila and Stratton, Michael R. and Rahman, Nazneen and Trench, Georgia C. and Bojesen, Stig E. and Nordestgaard, Borge G. and Axelsson, Christen K. and Closas, Montserrat G. and Brinton, Louise and Chanock, Stephen and Lissowska, Jolanta and Peplonska, Beata and Nevanlinna, Heli and Fagerholm, Rainer and Eerola, Hannaleena and Kang, Daehee and Yoo, Keun Y. and Noh, Dong Y. and Ahn, Sei H. and Hunter, David J. and Hankinson, Susan E. and Cox, David G. and Hall, Per and Wedren, Sara and Liu, Jianjun and Low, Yen L. and Bogdanova, Natalia and Schurmann, Peter and Dork, Thilo and Tollenaar, Rob A. E. M. and Jacobi, Catharina E. and Devilee, Peter and Klijn, Jan G. M. and Sigurdson, Alice J. and Doody, Michele M. and Alexander, Bruce H. and Zhang, Jinghui and Cox, Angela and Brock, Ian W. and Macpherson, Gordon and Reed, Malcolm W. R. and Couch, Fergus J. and Goode, Ellen L. and Olson, Janet E. and Heijboer, Hanne M. and van den Ouweland, Ans and Uitterlinden, Andre and Rivadeneira, Fernando and Milne, Roger L. and Ribas, Gloria and Neira, Anna G. and Benitez, Javier and Hopper, John L. and Mccredie, Margaret and Southey, Melissa and Giles, Graham G. and Schroen, Chris and Justenhoven, Christina and Brauch, Hiltrud and Hamann, Ute and Ko, Yon D. and Spurdle, Amanda B. and Beesley, Jonathan and Chen, Xiaoqing and Mannermaa, Arto and Kosma, Veli M. and Kataja, Vesa and Hartikainen, Jaana and Day, Nicholas E. and Cox, David R. and Ponder, Bruce A. J.}, citeulike-article-id = {3461026}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature05887}, comment = {10.1038/nature05887}, doi = {10.1038/nature05887}, journal = {Nature}, keywords = {005, 05, 10-7, 1343, 1792, 21860, 22, 22578, 227876, 25, 30, 4316, 4398, 77, a, account, additional, aggregation, alleles, an, and, approach, association, at, be, breast, by, cancer, cases, causative, chance, common, compared, conducted, conferring, confirmation, consistent, contain, controls, correlate, disease, due, estimated, europeans, evidence, exhibited, exhibits, expected, familial, fgfr2, file-import-08-10-29, five, followed, for, four, from, further, genes, genetic, genome-wide, identifiable, identify, in, independent, indicating, is, known, less, level, likely, loci, lsp1, many, map3k1, may, moderate, more, novel, nucleotide, of, p, plausible, polymorphisms, r2, residual, risk, risks, second, significant, single, snps, stage, strong, studies, study, susceptibility, tested, than, that, the, these, third, this, tnrc9, to, two-stage, used, variance, variants, variation, we, were, which, with, would}, number = {7148}, pages = {1087--1093}, posted-at = {2008-10-29 15:34:59}, priority = {0}, title = {Supplement to Genome-wide association study identifies novel breast cancer susceptibility loci}, url = {http://dx.doi.org/10.1038/nature05887}, volume = {447}, year = {2007} }

TY - JOUR ID - Easton2007s L3 - citeulike-article-id:3461026 N2 - Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r2 $>$ 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P $<$ 10E-7). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P $<$ 0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach. IS - 7148 JF - Nature EP - 1093 TI - Supplement to Genome-wide association study identifies novel breast cancer susceptibility loci VL - 447 SP - 1087 KW - 005 KW - 05 KW - 10-7 KW - 1343 KW - 1792 KW - 21860 KW - 22 KW - 22578 KW - 227876 KW - 25 KW - 30 KW - 4316 KW - 4398 KW - 77 KW - a KW - account KW - additional KW - aggregation KW - alleles KW - an KW - and KW - approach KW - association KW - at KW - be KW - breast KW - by KW - cancer KW - cases KW - causative KW - chance KW - common KW - compared KW - conducted KW - conferring KW - confirmation KW - consistent KW - contain KW - controls KW - correlate KW - disease KW - due KW - estimated KW - europeans KW - evidence KW - exhibited KW - exhibits KW - expected KW - familial KW - fgfr2 KW - file-import-08-10-29 KW - five KW - followed KW - for KW - four KW - from KW - further KW - genes KW - genetic KW - genome-wide KW - identifiable KW - identify KW - in KW - independent KW - indicating KW - is KW - known KW - less KW - level KW - likely KW - loci KW - lsp1 KW - many KW - map3k1 KW - may KW - moderate KW - more KW - novel KW - nucleotide KW - of KW - p KW - plausible KW - polymorphisms KW - r2 KW - residual KW - risk KW - risks KW - second KW - significant KW - single KW - snps KW - stage KW - strong KW - studies KW - study KW - susceptibility KW - tested KW - than KW - that KW - the KW - these KW - third KW - this KW - tnrc9 KW - to KW - two-stage KW - used KW - variance KW - variants KW - variation KW - we KW - were KW - which KW - with KW - would N1 - 10.1038/nature05887 AU - Easton, Douglas AU - Pooley, Karen AU - Dunning, Alison AU - Pharoah, Paul AU - Thompson, Deborah AU - Ballinger, Dennis AU - Struewing, Jeffery AU - Morrison, Jonathan AU - Field, Helen AU - Luben, Robert AU - Wareham, Nicholas AU - Ahmed, Shahana AU - Healey, Catherine AU - Bowman, Richard AU - Meyer, Kerstin AU - Haiman, Christopher AU - Kolonel, Laurence AU - Henderson, Brian AU - Le Marchand, Loic AU - Brennan, Paul AU - Sangrajrang, Suleeporn AU - Gaborieau, Valerie AU - Odefrey, Fabrice AU - Shen, Chen AU - Wu, Pei AU - Wang, Hui AU - Eccles, Diana AU - Evans, Gareth AU - Peto, Julian AU - Fletcher, Olivia AU - Johnson, Nichola AU - Seal, Sheila AU - Stratton, Michael AU - Rahman, Nazneen AU - Trench, Georgia AU - Bojesen, Stig AU - Nordestgaard, Borge AU - Axelsson, Christen AU - Closas, Montserrat AU - Brinton, Louise AU - Chanock, Stephen AU - Lissowska, Jolanta AU - Peplonska, Beata AU - Nevanlinna, Heli AU - Fagerholm, Rainer AU - Eerola, Hannaleena AU - Kang, Daehee AU - Yoo, Keun AU - Noh, Dong AU - Ahn, Sei AU - Hunter, David AU - Hankinson, Susan AU - Cox, David AU - Hall, Per AU - Wedren, Sara AU - Liu, Jianjun AU - Low, Yen AU - Bogdanova, Natalia AU - Schurmann, Peter AU - Dork, Thilo AU - Tollenaar, Rob AU - Jacobi, Catharina AU - Devilee, Peter AU - Klijn, Jan AU - Sigurdson, Alice AU - Doody, Michele AU - Alexander, Bruce AU - Zhang, Jinghui AU - Cox, Angela AU - Brock, Ian AU - Macpherson, Gordon AU - Reed, Malcolm AU - Couch, Fergus AU - Goode, Ellen AU - Olson, Janet AU - Heijboer, Hanne AU - van den Ouweland, Ans AU - Uitterlinden, Andre AU - Rivadeneira, Fernando AU - Milne, Roger AU - Ribas, Gloria AU - Neira, Anna AU - Benitez, Javier AU - Hopper, John AU - Mccredie, Margaret AU - Southey, Melissa AU - Giles, Graham AU - Schroen, Chris AU - Justenhoven, Christina AU - Brauch, Hiltrud AU - Hamann, Ute AU - Ko, Yon AU - Spurdle, Amanda AU - Beesley, Jonathan AU - Chen, Xiaoqing AU - Mannermaa, Arto AU - Kosma, Veli AU - Kataja, Vesa AU - Hartikainen, Jaana AU - Day, Nicholas AU - Cox, David AU - Ponder, Bruce PY - 2007/// UR - http://dx.doi.org/10.1038/nature05887 ER -