Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

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Fältnamn	Indikatorer	Metadata
000		08009naa a2201621 4500
001		oai:lup.lub.lu.se:d2ef36e5-9e24-47a3-98ce-10aa022ada54
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:128977843
024	7	a https://lup.lub.lu.se/record/44699692 URI
024	7	a https://doi.org/10.1093/carcin/bgt4042 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1289778432 URI
040		a (SwePub)lud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Purrington, Kristen S.4 aut
245	1 0	a Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
264		c 2013-12-09
264	1	b Oxford University Press (OUP),c 2014
520		a In a genome-wide scan, we show that 30 variants in 25 genomic regions are associated with risk of TN breast cancer. Women carrying many of the risk variants may have 4-fold increased risk relative to women with few variants.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 x 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 x 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 x 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 x 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
700	1	a Slager, Susan4 aut
700	1	a Eccles, Diana4 aut
700	1	a Yannoukakos, Drakoulis4 aut
700	1	a Fasching, Peter A.4 aut
700	1	a Miron, Penelope4 aut
700	1	a Carpenter, Jane4 aut
700	1	a Chang-Claude, Jenny4 aut
700	1	a Martin, Nicholas G.4 aut
700	1	a Montgomery, Grant W.4 aut
700	1	a Kristensen, Vessela4 aut
700	1	a Anton-Culver, Hoda4 aut
700	1	a Goodfellow, Paul4 aut
700	1	a Tapper, William J.4 aut
700	1	a Rafiq, Sajjad4 aut
700	1	a Gerty, Susan M.4 aut
700	1	a Durcan, Lorraine4 aut
700	1	a Konstantopoulou, Irene4 aut
700	1	a Fostira, Florentia4 aut
700	1	a Vratimos, Athanassios4 aut
700	1	a Apostolou, Paraskevi4 aut
700	1	a Konstanta, Irene4 aut
700	1	a Kotoula, Vassiliki4 aut
700	1	a Lakis, Sotiris4 aut
700	1	a Dimopoulos, Meletios A.4 aut
700	1	a Skarlos, Dimosthenis4 aut
700	1	a Pectasides, Dimitrios4 aut
700	1	a Fountzilas, George4 aut
700	1	a Beckmann, Matthias W.4 aut
700	1	a Hein, Alexander4 aut
700	1	a Ruebner, Matthias4 aut
700	1	a Ekici, Arif B.4 aut
700	1	a Hartmann, Arndt4 aut
700	1	a Schulz-Wendtland, Ruediger4 aut
700	1	a Renner, Stefan P.4 aut
700	1	a Janni, Wolfgang4 aut
700	1	a Rack, Brigitte4 aut
700	1	a Scholz, Christoph4 aut
700	1	a Neugebauer, Julia4 aut
700	1	a Andergassen, Ulrich4 aut
700	1	a Lux, Michael P.4 aut
700	1	a Haeberle, Lothar4 aut
700	1	a Clarke, Christine4 aut
700	1	a Pathmanathan, Nirmala4 aut
700	1	a Rudolph, Anja4 aut
700	1	a Flesch-Janys, Dieter4 aut
700	1	a Nickels, Stefan4 aut
700	1	a Olson, Janet E.4 aut
700	1	a Ingle, James N.4 aut
700	1	a Olswold, Curtis4 aut
700	1	a Slettedahl, Seth4 aut
700	1	a Eckel-Passow, Jeanette E.4 aut
700	1	a Anderson, S. Keith4 aut
700	1	a Visscher, Daniel W.4 aut
700	1	a Cafourek, Victoria L.4 aut
700	1	a Sicotte, Hugues4 aut
700	1	a Prodduturi, Naresh4 aut
700	1	a Weiderpass, Elisabeteu Karolinska Institutet4 aut
700	1	a Bernstein, Leslie4 aut
700	1	a Ziogas, Argyrios4 aut
700	1	a Ivanovich, Jennifer4 aut
700	1	a Giles, Graham G.4 aut
700	1	a Baglietto, Laura4 aut
700	1	a Southey, Melissa4 aut
700	1	a Kosma, Veli-Matti4 aut
700	1	a Fischer, Hans-Peter4 aut
700	1	a Reed, Malcom W. R.4 aut
700	1	a Cross, Simon S.4 aut
700	1	a Deming-Halverson, Sandra4 aut
700	1	a Shrubsole, Martha4 aut
700	1	a Cai, Qiuyin4 aut
700	1	a Shu, Xiao-Ou4 aut
700	1	a Daly, Mary4 aut
700	1	a Weaver, JoEllen4 aut
700	1	a Ross, Eric4 aut
700	1	a Klemp, Jennifer4 aut
700	1	a Sharma, Priyanka4 aut
700	1	a Torres, Diana4 aut
700	1	a Rudiger, Thomas4 aut
700	1	a Wolfing, Heidrun4 aut
700	1	a Ulmer, Hans-Ulrich4 aut
700	1	a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-asf
700	1	a Khoury, Thaer4 aut
700	1	a Kumar, Shicha4 aut
700	1	a Pilarski, Robert4 aut
700	1	a Shapiro, Charles L.4 aut
700	1	a Greco, Dario4 aut
700	1	a Heikkila, Paivi4 aut
700	1	a Aittomaki, Kristiina4 aut
700	1	a Blomqvist, Carl4 aut
700	1	a Irwanto, Astrid4 aut
700	1	a Liu, Jianjun4 aut
700	1	a Pankratz, Vernon Shane4 aut
700	1	a Wang, Xianshu4 aut
700	1	a Severi, Gianluca4 aut
700	1	a Mannermaa, Arto4 aut
700	1	a Easton, Douglas4 aut
700	1	a Hall, Peru Karolinska Institutet4 aut
700	1	a Brauch, Hiltrud4 aut
700	1	a Cox, Angela4 aut
700	1	a Zheng, Wei4 aut
700	1	a Godwin, Andrew K.4 aut
700	1	a Hamann, Ute4 aut
700	1	a Ambrosone, Christine4 aut
700	1	a Toland, Amanda Ewart4 aut
700	1	a Nevanlinna, Heli4 aut
700	1	a Vachon, Celine M.4 aut
700	1	a Couch, Fergus J.4 aut
710	2	a Karolinska Institutetb Allmänmedicin och klinisk epidemiologi4 org
773	0	t Carcinogenesisd : Oxford University Press (OUP)g 35:5, s. 1012-1019q 35:5<1012-1019x 0143-3334x 1460-2180
856	4	u http://dx.doi.org/10.1093/carcin/bgt404y FULLTEXT
856	4	u https://academic.oup.com/carcin/article-pdf/35/5/1012/14132877/bgt404.pdf
856	4 8	u https://lup.lub.lu.se/record/4469969
856	4 8	u https://doi.org/10.1093/carcin/bgt404
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:128977843

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Av författaren/redakt...: Purrington, Kris ...; Slager, Susan; Eccles, Diana; Yannoukakos, Dra ...; Fasching, Peter ...; Miron, Penelope; visa fler...; Carpenter, Jane; Chang-Claude, Je ...; Martin, Nicholas ...; Montgomery, Gran ...; Kristensen, Vess ...; Anton-Culver, Ho ...; Goodfellow, Paul; Tapper, William ...; Rafiq, Sajjad; Gerty, Susan M.; Durcan, Lorraine; Konstantopoulou, ...; Fostira, Florent ...; Vratimos, Athana ...; Apostolou, Paras ...; Konstanta, Irene; Kotoula, Vassili ...; Lakis, Sotiris; Dimopoulos, Mele ...; Skarlos, Dimosth ...; Pectasides, Dimi ...; Fountzilas, Geor ...; Beckmann, Matthi ...; Hein, Alexander; Ruebner, Matthia ...; Ekici, Arif B.; Hartmann, Arndt; Schulz-Wendtland ...; Renner, Stefan P ...; Janni, Wolfgang; Rack, Brigitte; Scholz, Christop ...; Neugebauer, Juli ...; Andergassen, Ulr ...; Lux, Michael P.; Haeberle, Lothar; Clarke, Christin ...; Pathmanathan, Ni ...; Rudolph, Anja; Flesch-Janys, Di ...; Nickels, Stefan; Olson, Janet E.; Ingle, James N.; Olswold, Curtis; Slettedahl, Seth; Eckel-Passow, Je ...; Anderson, S. Kei ...; Visscher, Daniel ...; Cafourek, Victor ...; Sicotte, Hugues; Prodduturi, Nare ...; Weiderpass, Elis ...; Bernstein, Lesli ...; Ziogas, Argyrios; Ivanovich, Jenni ...; Giles, Graham G.; Baglietto, Laura; Southey, Melissa; Kosma, Veli-Matt ...; Fischer, Hans-Pe ...; Reed, Malcom W. ...; Cross, Simon S.; Deming-Halverson ...; Shrubsole, Marth ...; Cai, Qiuyin; Shu, Xiao-Ou; Daly, Mary; Weaver, JoEllen; Ross, Eric; Klemp, Jennifer; Sharma, Priyanka; Torres, Diana; Rudiger, Thomas; Wolfing, Heidrun; Ulmer, Hans-Ulri ...; Försti, Asta; Khoury, Thaer; Kumar, Shicha; Pilarski, Robert; Shapiro, Charles ...; Greco, Dario; Heikkila, Paivi; Aittomaki, Krist ...; Blomqvist, Carl; Irwanto, Astrid; Liu, Jianjun; Pankratz, Vernon ...; Wang, Xianshu; Severi, Gianluca; Mannermaa, Arto; Easton, Douglas; Hall, Per; Brauch, Hiltrud; Cox, Angela; Zheng, Wei; Godwin, Andrew K ...; Hamann, Ute; Ambrosone, Chris ...; Toland, Amanda E ...; Nevanlinna, Heli; Vachon, Celine M ...; Couch, Fergus J.; visa färre...

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