Guo, Xingyi, Long, Jirong ORCID: 0000-0002-7433-9766, Zeng, Chenjie ORCID: 0000-0002-0149-5661, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Ghoussaini, Maya, Bolla, Manjeet K., Wang, Qin, Milne, Roger L., Shu, Xiao-Ou, Cai, Qiuyin, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Kar, Siddhartha P. ORCID: 0000-0002-2314-1426, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Blot, William, Bogdanova, Natalia, Bojesen, Stig E., Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Brinton, Louise, Broeks, Annegien, Bruening, Thomas, Burwinkel, Barbara, Cai, Hui, Canisius, Sander, Chang-Claude, Jenny, Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Devilee, Peter ORCID: 0000-0002-8023-2009, Droit, Arnaud ORCID: 0000-0001-7922-790X, Doerk, Thilo, Fasching, Peter A., Fletcher, Olivia ORCID: 0000-0001-9387-7116, Flyger, Henrik, Fostira, Florentia, Gaborieau, Valerie, Garcia-Closas, Montserrat, Giles, Graham G., Grip, Mervi, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hamann, Ute, Hartman, Mikael ORCID: 0000-0001-5726-9965, Hollestelle, Antoinette ORCID: 0000-0003-1166-1966, Hopper, John L., Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Johnson, Nichola, Kabisch, Maria, Kang, Daehee ORCID: 0000-0003-4031-5878, Khan, Sofia ORCID: 0000-0003-4185-8882, Knight, Julia A., Kosma, Veli-Matti, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Li, Jingmei ORCID: 0000-0001-8587-7511, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, McLean, Catriona A., Meindl, Alfons, Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje ORCID: 0000-0002-3271-5356, Olson, Janet E., Orr, Nick, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Putti, Thomas Choudary, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Shen, Chen-Yang, Shi, Jiajun, Shrubsole, Martha J., Southey, Melissa C., Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo Hwang, Thienpont, Bernard ORCID: 0000-0002-8772-6845, Toland, Amanda Ewart, Tollenaar, Robert A. E. M., Tomlinson, Ian P. M., Truong, Therese ORCID: 0000-0002-2943-6786, Tseng, Chiu-chen, van den Ouweland, Ans, Wen, Wanqing, Winqvist, Robert, Wu, Anna, Yip, Cheng Har, Zamora, M. Pilar, Zheng, Ying, Hall, Per, Pharoah, Paul D. P., Simard, Jacques, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Dunning, Alison M., Easton, Douglas F. and Zheng, Wei ORCID: 0000-0003-1226-070X (2015). Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk. Cancer Epidemiol. Biomarkers Prev., 24 (11). S. 1680 - 1692. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7755

Full text not available from this repository.

Abstract

Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 x 10(-4); OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P = 1.86 x 10(-4); OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r(2) >= 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk. (C) 2015 AACR.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Guo, XingyiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Long, JirongUNSPECIFIEDorcid.org/0000-0002-7433-9766UNSPECIFIED
Zeng, ChenjieUNSPECIFIEDorcid.org/0000-0002-0149-5661UNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Ghoussaini, MayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cai, QiuyinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beesley, JonathanUNSPECIFIEDorcid.org/0000-0003-1942-325XUNSPECIFIED
Kar, Siddhartha P.UNSPECIFIEDorcid.org/0000-0002-2314-1426UNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beeghly-Fadiel, AliciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blot, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogdanova, NataliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Brinton, LouiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Broeks, AnnegienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruening, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cai, HuiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Canisius, SanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Darabi, HatefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Droit, ArnaudUNSPECIFIEDorcid.org/0000-0001-7922-790XUNSPECIFIED
Doerk, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDorcid.org/0000-0001-9387-7116UNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fostira, FlorentiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gaborieau, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grip, MerviUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartman, MikaelUNSPECIFIEDorcid.org/0000-0001-5726-9965UNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDorcid.org/0000-0003-1166-1966UNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hsiung, Chia-NiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ito, HidemiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Johnson, NicholaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kabisch, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDorcid.org/0000-0003-4031-5878UNSPECIFIED
Khan, SofiaUNSPECIFIEDorcid.org/0000-0003-4185-8882UNSPECIFIED
Knight, Julia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDorcid.org/0000-0001-8587-7511UNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lophatananon, ArtitayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marme, FrederikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDorcid.org/0000-0003-1761-6314UNSPECIFIED
McLean, Catriona A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muir, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nord, SiljeUNSPECIFIEDorcid.org/0000-0002-3271-5356UNSPECIFIED
Olson, Janet E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orr, NickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Putti, Thomas ChoudaryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sangrajrang, SuleepornUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shi, JiajunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shrubsole, Martha J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Teo, Soo HwangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thienpont, BernardUNSPECIFIEDorcid.org/0000-0002-8772-6845UNSPECIFIED
Toland, Amanda EwartUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tollenaar, Robert A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, Ian P. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Truong, ThereseUNSPECIFIEDorcid.org/0000-0002-2943-6786UNSPECIFIED
Tseng, Chiu-chenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Ouweland, AnsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wen, WanqingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yip, Cheng HarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zamora, M. PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, YingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
URN: urn:nbn:de:hbz:38-388601
DOI: 10.1158/1055-9965.EPI-15-0363
Journal or Publication Title: Cancer Epidemiol. Biomarkers Prev.
Volume: 24
Number: 11
Page Range: S. 1680 - 1692
Date: 2015
Publisher: AMER ASSOC CANCER RESEARCH
Place of Publication: PHILADELPHIA
ISSN: 1538-7755
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; CELL SELF-RENEWAL; SUSCEPTIBILITY LOCI; MYELOID CANCERS; FUNCTIONAL VARIANTS; STEM-CELLS; CYCLIN D1; TET2; EXPRESSION; ENHANCERSMultiple languages
Oncology; Public, Environmental & Occupational HealthMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/38860

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