[
{
"identifier" :"HGVST617",
"study_number" :"617",
"name" :"GWAS of breast cancer",
"phenotypes" :[
"Breast cancer"
],
"date_created" :"2010-10-08 12:11:02",
"date_updated" :null,
"accesslevel" :"full",
"request_response" :null,
"child_accesslevel" :"full",
"citations" :[
{
"link" :"http://pubmed.gov/20852631",
"authors" :"Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, G\u00f3mez Garc\u00eda EB, Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, G\u00f3rski B, Cybulski C, Spurdle AB, Holland H, Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod S, Szabo CI, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O, Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H, Severi G, Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, R\u00fcdiger T, F\u00f6rsti A, Winqvist R, Pylk\u00e4s K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C, Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H, Chenevix-Trench G, Easton DF, Couch FJ",
"pubmedid" :"20852631",
"image" :"link",
"detail" :"Nature genetics 2010;42(10):885-92",
"target" :"_blank",
"title" :"A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.",
"label" :"Antoniou AC et al.",
"doi" :"http://dx.doi.org/10.1038/ng.669"
},
{
"link" :"http://pubmed.gov/19474294",
"authors" :"Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA.",
"pubmedid" :"19474294",
"image" :"link",
"detail" :"Proceedings of the National Academy of Sciences U S A. 2009 May 27",
"target" :"_blank",
"title" :"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.",
"label" :"Hindorff LA et al.",
"doi" :"http://dx.doi.org/10.1073/pnas.0903103106"
}
],
"resultsets" :[
"HGVRS1236"
],
"genotyping_platforms" :[
"Illumina 555",
"616"
],
"number_of_markers" :[
1
],
"abstract" :"Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 \u00d7 10\u207b\u2079 to P(trend) = 3.9 \u00d7 10\u207b\u2077), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P(trend) = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P(trend) = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (P(trend) = 1 \u00d7 10\u207b\u2077) to P(trend) = 8 \u00d7 10\u207b\u2075; rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P(trend) = 1.1 \u00d7 10\u207b\u2077",
"highest_pvalue" :"8",
"title" :"Study HGVST617: GWAS of breast cancer",
"link" :"https://www.gwascentral.org//study/HGVST617",
"phenotype_ontology" :[],
"addable" :1,
"added" :0
},
{
"identifier" :"HGVST619",
"study_number" :"619",
"name" :"GWAS of ovarian cancer",
"phenotypes" :[
"Ovarian cancer susceptibility"
],
"date_created" :"2010-10-08 12:11:02",
"date_updated" :null,
"accesslevel" :"full",
"request_response" :null,
"child_accesslevel" :"full",
"citations" :[
{
"link" :"http://pubmed.gov/20852633",
"authors" :"Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brook-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, D\u00fcrst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA",
"pubmedid" :"20852633",
"image" :"link",
"detail" :"Nature genetics 2010;42(10):880-4",
"target" :"_blank",
"title" :"Common variants at 19p13 are associated with susceptibility to ovarian cancer.",
"label" :"Bolton KL et al.",
"doi" :"http://dx.doi.org/10.1038/ng.666"
},
{
"link" :"http://pubmed.gov/19474294",
"authors" :"Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA.",
"pubmedid" :"19474294",
"image" :"link",
"detail" :"Proceedings of the National Academy of Sciences U S A. 2009 May 27",
"target" :"_blank",
"title" :"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.",
"label" :"Hindorff LA et al.",
"doi" :"http://dx.doi.org/10.1073/pnas.0903103106"
}
],
"resultsets" :[
"HGVRS1238"
],
"genotyping_platforms" :[
"Illumina 540",
"573"
],
"number_of_markers" :[
2
],
"abstract" :"Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 \u00d7 10\u207b\u2074 and P = 6 \u00d7 10\u207b\u2074, respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 \u00d7 10\u207b\u2079 and P = 4 \u00d7 10\u207b\u00b9\u00b9, respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.",
"highest_pvalue" :"7",
"title" :"Study HGVST619: GWAS of ovarian cancer",
"link" :"https://www.gwascentral.org//study/HGVST619",
"phenotype_ontology" :[],
"addable" :1,
"added" :0
}
]