Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
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Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. / Purrington, Kristen S; Slager, Susan; Eccles, Diana; Yannoukakos, Drakoulis; Fasching, Peter A; Miron, Penelope; Carpenter, Jane; Chang-Claude, Jenny; Martin, Nicholas G; Montgomery, Grant W; Kristensen, Vessela; Anton-Culver, Hoda; Goodfellow, Paul; Tapper, William J; Rafiq, Sajjad; Gerty, Susan M; Durcan, Lorraine; Konstantopoulou, Irene; Fostira, Florentia; Vratimos, Athanassios; Apostolou, Paraskevi; Konstanta, Irene; Kotoula, Vassiliki; Lakis, Sotiris; Dimopoulos, Meletios A; Skarlos, Dimosthenis; Pectasides, Dimitrios; Fountzilas, George; Beckmann, Matthias W; Hein, Alexander; Ruebner, Matthias; Ekici, Arif B; Hartmann, Arndt; Schulz-Wendtland, Ruediger; Renner, Stefan P; Janni, Wolfgang; Rack, Brigitte; Scholz, Christoph; Neugebauer, Julia; Andergassen, Ulrich; Lux, Michael P; Haeberle, Lothar; Clarke, Christine; Pathmanathan, Nirmala; Rudolph, Anja; Flesch-Janys, Dieter; Nickels, Stefan; Olson, Janet E; Ingle, James N; Olswold, Curtis; Slettedahl, Seth; Eckel-Passow, Jeanette E; Anderson, S Keith; Visscher, Daniel W; Cafourek, Victoria L; Sicotte, Hugues; Prodduturi, Naresh; Weiderpass, Elisabete; Bernstein, Leslie; Ziogas, Argyrios; Ivanovich, Jennifer; Giles, Graham G; Baglietto, Laura; Southey, Melissa; Kosma, Veli-Matti; Fischer, Hans-Peter; Reed, Malcom W R; Cross, Simon S; Deming-Halverson, Sandra; Shrubsole, Martha; Cai, Qiuyin; Shu, Xiao-Ou; Daly, Mary; Weaver, Joellen; Ross, Eric; Klemp, Jennifer; Sharma, Priyanka; Torres, Diana; Rüdiger, Thomas; Wölfing, Heidrun; Ulmer, Hans-Ulrich; Försti, Asta; Khoury, Thaer; Kumar, Shicha; Pilarski, Robert; Shapiro, Charles L; Greco, Dario; Heikkilä, Päivi; Aittomäki, Kristiina; Blomqvist, Carl; Irwanto, Astrid; Liu, Jianjun; Pankratz, Vernon Shane; Wang, Xianshu; Severi, Gianluca; Mannermaa, Arto; Easton, Douglas; Hall, Per; Brauch, Hiltrud; Cox, Angela; Zheng, Wei; Godwin, Andrew K; Hamann, Ute; Ambrosone, Christine; Toland, Amanda Ewart; Nevanlinna, Heli; Vachon, Celine M; Couch, Fergus J; GENICA Network.
in: CARCINOGENESIS, Jahrgang 35, Nr. 5, 01.05.2014, S. 1012-9.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
AU - Purrington, Kristen S
AU - Slager, Susan
AU - Eccles, Diana
AU - Yannoukakos, Drakoulis
AU - Fasching, Peter A
AU - Miron, Penelope
AU - Carpenter, Jane
AU - Chang-Claude, Jenny
AU - Martin, Nicholas G
AU - Montgomery, Grant W
AU - Kristensen, Vessela
AU - Anton-Culver, Hoda
AU - Goodfellow, Paul
AU - Tapper, William J
AU - Rafiq, Sajjad
AU - Gerty, Susan M
AU - Durcan, Lorraine
AU - Konstantopoulou, Irene
AU - Fostira, Florentia
AU - Vratimos, Athanassios
AU - Apostolou, Paraskevi
AU - Konstanta, Irene
AU - Kotoula, Vassiliki
AU - Lakis, Sotiris
AU - Dimopoulos, Meletios A
AU - Skarlos, Dimosthenis
AU - Pectasides, Dimitrios
AU - Fountzilas, George
AU - Beckmann, Matthias W
AU - Hein, Alexander
AU - Ruebner, Matthias
AU - Ekici, Arif B
AU - Hartmann, Arndt
AU - Schulz-Wendtland, Ruediger
AU - Renner, Stefan P
AU - Janni, Wolfgang
AU - Rack, Brigitte
AU - Scholz, Christoph
AU - Neugebauer, Julia
AU - Andergassen, Ulrich
AU - Lux, Michael P
AU - Haeberle, Lothar
AU - Clarke, Christine
AU - Pathmanathan, Nirmala
AU - Rudolph, Anja
AU - Flesch-Janys, Dieter
AU - Nickels, Stefan
AU - Olson, Janet E
AU - Ingle, James N
AU - Olswold, Curtis
AU - Slettedahl, Seth
AU - Eckel-Passow, Jeanette E
AU - Anderson, S Keith
AU - Visscher, Daniel W
AU - Cafourek, Victoria L
AU - Sicotte, Hugues
AU - Prodduturi, Naresh
AU - Weiderpass, Elisabete
AU - Bernstein, Leslie
AU - Ziogas, Argyrios
AU - Ivanovich, Jennifer
AU - Giles, Graham G
AU - Baglietto, Laura
AU - Southey, Melissa
AU - Kosma, Veli-Matti
AU - Fischer, Hans-Peter
AU - Reed, Malcom W R
AU - Cross, Simon S
AU - Deming-Halverson, Sandra
AU - Shrubsole, Martha
AU - Cai, Qiuyin
AU - Shu, Xiao-Ou
AU - Daly, Mary
AU - Weaver, Joellen
AU - Ross, Eric
AU - Klemp, Jennifer
AU - Sharma, Priyanka
AU - Torres, Diana
AU - Rüdiger, Thomas
AU - Wölfing, Heidrun
AU - Ulmer, Hans-Ulrich
AU - Försti, Asta
AU - Khoury, Thaer
AU - Kumar, Shicha
AU - Pilarski, Robert
AU - Shapiro, Charles L
AU - Greco, Dario
AU - Heikkilä, Päivi
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Irwanto, Astrid
AU - Liu, Jianjun
AU - Pankratz, Vernon Shane
AU - Wang, Xianshu
AU - Severi, Gianluca
AU - Mannermaa, Arto
AU - Easton, Douglas
AU - Hall, Per
AU - Brauch, Hiltrud
AU - Cox, Angela
AU - Zheng, Wei
AU - Godwin, Andrew K
AU - Hamann, Ute
AU - Ambrosone, Christine
AU - Toland, Amanda Ewart
AU - Nevanlinna, Heli
AU - Vachon, Celine M
AU - Couch, Fergus J
AU - GENICA Network
AU - Harth, Volker
PY - 2014/5/1
Y1 - 2014/5/1
N2 - Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 × 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction.
AB - Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 × 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction.
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Case-Control Studies
KW - Chromosomes, Human, Pair 19
KW - Estrogen Receptor alpha
KW - Female
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Humans
KW - Middle Aged
KW - Polymorphism, Single Nucleotide
KW - Quantitative Trait Loci
KW - Triple Negative Breast Neoplasms
KW - Young Adult
U2 - 10.1093/carcin/bgt404
DO - 10.1093/carcin/bgt404
M3 - SCORING: Journal article
C2 - 24325915
VL - 35
SP - 1012
EP - 1019
JO - CARCINOGENESIS
JF - CARCINOGENESIS
SN - 0143-3334
IS - 5
ER -