Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
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DOI：
10.1016/j.ajhg.2016.07.017
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发表时间：
2016-10-06
影响因子：
9.8
通讯作者：
Edwards SL
中科院分区：
文献类型：
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作者：
Ghoussaini M;French JD;Michailidou K;Nord S;Beesley J;Canisus S;Hillman KM;Kaufmann S;Sivakumaran H;Moradi Marjaneh M;Lee JS;Dennis J;Bolla MK;Wang Q;Dicks E;Milne RL;Hopper JL;Southey MC;Schmidt MK;Broeks A;Muir K;Lophatananon A;Fasching PA;Beckmann MW;Fletcher O;Johnson N;Sawyer EJ;Tomlinson I;Burwinkel B;Marme F;Guénel P;Truong T;Bojesen SE;Flyger H;Benitez J;González-Neira A;Alonso MR;Pita G;Neuhausen SL;Anton-Culver H;Brenner H;Arndt V;Meindl A;Schmutzler RK;Brauch H;Hamann U;Tessier DC;Vincent D;Nevanlinna H;Khan S;Matsuo K;Ito H;Dörk T;Bogdanova NV;Lindblom A;Margolin S;Mannermaa A;Kosma VM;kConFab/AOCS Investigators;Wu AH;Van Den Berg D;Lambrechts D;Floris G;Chang-Claude J;Rudolph A;Radice P;Barile M;Couch FJ;Hallberg E;Giles GG;Haiman CA;Le Marchand L;Goldberg MS;Teo SH;Yip CH;Borresen-Dale AL;NBCS Collaborators;Zheng W;Cai Q;Winqvist R;Pylkäs K;Andrulis IL;Devilee P;Tollenaar RA;García-Closas M;Figueroa J;Hall P;Czene K;Brand JS;Darabi H;Eriksson M;Hooning MJ;Koppert LB;Li J;Shu XO;Zheng Y;Cox A;Cross SS;Shah M;Rhenius V;Choi JY;Kang D;Hartman M;Chia KS;Kabisch M;Torres D;Luccarini C;Conroy DM;Jakubowska A;Lubinski J;Sangrajrang S;Brennan P;Olswold C;Slager S;Shen CY;Hou MF;Swerdlow A;Schoemaker MJ;Simard J;Pharoah PD;Kristensen V;Chenevix-Trench G;Easton DF;Dunning AM;Edwards SL
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13–1.18; p = 8.35 × 10−30). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER−) breast cancer (lead SNP rs6864776: per-a allele OR ER− = 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10−12), and a single signal 3 SNP (rs200229088: per-t allele OR ER+ = 1.12; 95% CI 1.09–1.15; p conditional = 1.12 × 10−05). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas MRPS30 plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis.
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DOI：
10.1158/1055-9965.epi-11-0569
发表时间：
2011-10
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Milne RL;Goode EL;García-Closas M;Couch FJ;Severi G;Hein R;Fredericksen Z;Malats N;Zamora MP;Arias Pérez JI;Benítez J;Dörk T;Schürmann P;Karstens JH;Hillemanns P;Cox A;Brock IW;Elliot G;Cross SS;Seal S;Turnbull C;Renwick A;Rahman N;Shen CY;Yu JC;Huang CS;Hou MF;Nordestgaard BG;Bojesen SE;Lanng C;Grenaker Alnæs G;Kristensen V;Børrensen-Dale AL;Hopper JL;Dite GS;Apicella C;Southey MC;Lambrechts D;Yesilyurt BT;Floris G;Leunen K;Sangrajrang S;Gaborieau V;Brennan P;McKay J;Chang-Claude J;Wang-Gohrke S;Radice P;Peterlongo P;Manoukian S;Barile M;Giles GG;Baglietto L;John EM;Miron A;Chanock SJ;Lissowska J;Sherman ME;Figueroa JD;Bogdanova NV;Antonenkova NN;Zalutsky IV;Rogov YI;Fasching PA;Bayer CM;Ekici AB;Beckmann MW;Brenner H;Müller H;Arndt V;Stegmaier C;Andrulis IL;Knight JA;Glendon G;Mulligan AM;Mannermaa A;Kataja V;Kosma VM;Hartikainen JM;Meindl A;Heil J;Bartram CR;Schmutzler RK;Thomas GD;Hoover RN;Fletcher O;Gibson LJ;dos Santos Silva I;Peto J;Nickels S;Flesch-Janys D;Anton-Culver H;Ziogas A;Sawyer E;Tomlinson I;Kerin M;Miller N;Schmidt MK;Broeks A;Van 't Veer LJ;Tollenaar RA;Pharoah PD;Dunning AM;Pooley KA;Marme F;Schneeweiss A;Sohn C;Burwinkel B;Jakubowska A;Lubinski J;Jaworska K;Durda K;Kang D;Yoo KY;Noh DY;Ahn SH;Hunter DJ;Hankinson SE;Kraft P;Lindstrom S;Chen X;Beesley J;Hamann U;Harth V;Justenhoven C;GENICA Network;Winqvist R;Pylkäs K;Jukkola-Vuorinen A;Grip M;Hooning M;Hollestelle A;Oldenburg RA;Tilanus-Linthorst M;Khusnutdinova E;Bermisheva M;Prokofieva D;Farahtdinova A;Olson JE;Wang X;Humphreys MK;Wang Q;Chenevix-Trench G;kConFab Investigators;AOCS Group;Easton DF
通讯作者：
Easton DF
影响因子：
30.8
作者：
Dunning AM;Michailidou K;Kuchenbaecker KB;Thompson D;French JD;Beesley J;Healey CS;Kar S;Pooley KA;Lopez-Knowles E;Dicks E;Barrowdale D;Sinnott-Armstrong NA;Sallari RC;Hillman KM;Kaufmann S;Sivakumaran H;Moradi Marjaneh M;Lee JS;Hills M;Jarosz M;Drury S;Canisius S;Bolla MK;Dennis J;Wang Q;Hopper JL;Southey MC;Broeks A;Schmidt MK;Lophatananon A;Muir K;Beckmann MW;Fasching PA;Dos-Santos-Silva I;Peto J;Sawyer EJ;Tomlinson I;Burwinkel B;Marme F;Guénel P;Truong T;Bojesen SE;Flyger H;González-Neira A;Perez JI;Anton-Culver H;Eunjung L;Arndt V;Brenner H;Meindl A;Schmutzler RK;Brauch H;Hamann U;Aittomäki K;Blomqvist C;Ito H;Matsuo K;Bogdanova N;Dörk T;Lindblom A;Margolin S;Kosma VM;Mannermaa A;Tseng CC;Wu AH;Lambrechts D;Wildiers H;Chang-Claude J;Rudolph A;Peterlongo P;Radice P;Olson JE;Giles GG;Milne RL;Haiman CA;Henderson BE;Goldberg MS;Teo SH;Yip CH;Nord S;Borresen-Dale AL;Kristensen V;Long J;Zheng W;Pylkäs K;Winqvist R;Andrulis IL;Knight JA;Devilee P;Seynaeve C;Figueroa J;Sherman ME;Czene K;Darabi H;Hollestelle A;van den Ouweland AM;Humphreys K;Gao YT;Shu XO;Cox A;Cross SS;Blot W;Cai Q;Ghoussaini M;Perkins BJ;Shah M;Choi JY;Kang D;Lee SC;Hartman M;Kabisch M;Torres D;Jakubowska A;Lubinski J;Brennan P;Sangrajrang S;Ambrosone CB;Toland AE;Shen CY;Wu PE;Orr N;Swerdlow A;McGuffog L;Healey S;Lee A;Kapuscinski M;John EM;Terry MB;Daly MB;Goldgar DE;Buys SS;Janavicius R;Tihomirova L;Tung N;Dorfling CM;van Rensburg EJ;Neuhausen SL;Ejlertsen B;Hansen TV;Osorio A;Benitez J;Rando R;Weitzel JN;Bonanni B;Peissel B;Manoukian S;Papi L;Ottini L;Konstantopoulou I;Apostolou P;Garber J;Rashid MU;Frost D;EMBRACE;Izatt L;Ellis S;Godwin AK;Arnold N;Niederacher D;Rhiem K;Bogdanova-Markov N;Sagne C;Stoppa-Lyonnet D;Damiola F;GEMO Study Collaborators;Sinilnikova OM;Mazoyer S;Isaacs C;Claes KB;De Leeneer K;de la Hoya M;Caldes T;Nevanlinna H;Khan S;Mensenkamp AR;HEBON;Hooning MJ;Rookus MA;Kwong A;Olah E;Diez O;Brunet J;Pujana MA;Gronwald J;Huzarski T;Barkardottir RB;Laframboise R;Soucy P;Montagna M;Agata S;Teixeira MR;kConFab Investigators;Park SK;Lindor N;Couch FJ;Tischkowitz M;Foretova L;Vijai J;Offit K;Singer CF;Rappaport C;Phelan CM;Greene MH;Mai PL;Rennert G;Imyanitov EN;Hulick PJ;Phillips KA;Piedmonte M;Mulligan AM;Glendon G;Bojesen A;Thomassen M;Caligo MA;Yoon SY;Friedman E;Laitman Y;Borg A;von Wachenfeldt A;Ehrencrona H;Rantala J;Olopade OI;Ganz PA;Nussbaum RL;Gayther SA;Nathanson KL;Domchek SM;Arun BK;Mitchell G;Karlan BY;Lester J;Maskarinec G;Woolcott C;Scott C;Stone J;Apicella C;Tamimi R;Luben R;Khaw KT;Helland Å;Haakensen V;Dowsett M;Pharoah PD;Simard J;Hall P;García-Closas M;Vachon C;Chenevix-Trench G;Antoniou AC;Easton DF;Edwards SL
通讯作者：
Edwards SL
影响因子：
6.6
作者：
Quigley DA;Fiorito E;Nord S;Van Loo P;Alnæs GG;Fleischer T;Tost J;Moen Vollan HK;Tramm T;Overgaard J;Bukholm IR;Hurtado A;Balmain A;Børresen-Dale AL;Kristensen V
通讯作者：
Kristensen V
影响因子：
16.6
作者：
Ghoussaini M;Edwards SL;Michailidou K;Nord S;Cowper-Sal Lari R;Desai K;Kar S;Hillman KM;Kaufmann S;Glubb DM;Beesley J;Dennis J;Bolla MK;Wang Q;Dicks E;Guo Q;Schmidt MK;Shah M;Luben R;Brown J;Czene K;Darabi H;Eriksson M;Klevebring D;Bojesen SE;Nordestgaard BG;Nielsen SF;Flyger H;Lambrechts D;Thienpont B;Neven P;Wildiers H;Broeks A;Van't Veer LJ;Th Rutgers EJ;Couch FJ;Olson JE;Hallberg E;Vachon C;Chang-Claude J;Rudolph A;Seibold P;Flesch-Janys D;Peto J;Dos-Santos-Silva I;Gibson L;Nevanlinna H;Muranen TA;Aittomäki K;Blomqvist C;Hall P;Li J;Liu J;Humphreys K;Kang D;Choi JY;Park SK;Noh DY;Matsuo K;Ito H;Iwata H;Yatabe Y;Guénel P;Truong T;Menegaux F;Sanchez M;Burwinkel B;Marme F;Schneeweiss A;Sohn C;Wu AH;Tseng CC;Van Den Berg D;Stram DO;Benitez J;Zamora MP;Perez JI;Menéndez P;Shu XO;Lu W;Gao YT;Cai Q;Cox A;Cross SS;Reed MW;Andrulis IL;Knight JA;Glendon G;Tchatchou S;Sawyer EJ;Tomlinson I;Kerin MJ;Miller N;Haiman CA;Henderson BE;Schumacher F;Le Marchand L;Lindblom A;Margolin S;Teo SH;Yip CH;Lee DS;Wong TY;Hooning MJ;Martens JW;Collée JM;van Deurzen CH;Hopper JL;Southey MC;Tsimiklis H;Kapuscinski MK;Shen CY;Wu PE;Yu JC;Chen ST;Alnæs GG;Borresen-Dale AL;Giles GG;Milne RL;McLean C;Muir K;Lophatananon A;Stewart-Brown S;Siriwanarangsan P;Hartman M;Miao H;Buhari SA;Teo YY;Fasching PA;Haeberle L;Ekici AB;Beckmann MW;Brenner H;Dieffenbach AK;Arndt V;Stegmaier C;Swerdlow A;Ashworth A;Orr N;Schoemaker MJ;García-Closas M;Figueroa J;Chanock SJ;Lissowska J;Simard J;Goldberg MS;Labrèche F;Dumont M;Winqvist R;Pylkäs K;Jukkola-Vuorinen A;Brauch H;Brüning T;Koto YD;Radice P;Peterlongo P;Bonanni B;Volorio S;Dörk T;Bogdanova NV;Helbig S;Mannermaa A;Kataja V;Kosma VM;Hartikainen JM;Devilee P;Tollenaar RA;Seynaeve C;Van Asperen CJ;Jakubowska A;Lubinski J;Jaworska-Bieniek K;Durda K;Slager S;Toland AE;Ambrosone CB;Yannoukakos D;Sangrajrang S;Gaborieau V;Brennan P;McKay J;Hamann U;Torres D;Zheng W;Long J;Anton-Culver H;Neuhausen SL;Luccarini C;Baynes C;Ahmed S;Maranian M;Healey CS;González-Neira A;Pita G;Alonso MR;Alvarez N;Herrero D;Tessier DC;Vincent D;Bacot F;de Santiago I;Carroll J;Caldas C;Brown MA;Lupien M;Kristensen VN;Pharoah PD;Chenevix-Trench G;French JD;Easton DF;Dunning AM;Australian Ovarian Cancer Management Group;Australian Ovarian Cancer Management Group
通讯作者：
Australian Ovarian Cancer Management Group
影响因子：
64.5
作者：
Hnisz D;Abraham BJ;Lee TI;Lau A;Saint-André V;Sigova AA;Hoke HA;Young RA
通讯作者：
Young RA