Darabi, Hatef, Mccue, Karen, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Nord, Silje ORCID: 0000-0002-3271-5356, Kar, Siddhartha, Humphreys, Keith, Thompson, Deborah, Ghoussaini, Maya, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Canisius, Sander, Scott, Christopher G., Apicella, Carmel, Hopper, John L., Southey, Melissa C., Stone, Jennifer ORCID: 0000-0001-5077-0124, Broeks, Annegien, Schmidt, Marjanka K., Scott, Rodney J., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Heusinger, Katharina, dos-Santos-Silva, Isabel, Peto, Julian, Tomlinson, Ian, Sawyer, Elinor J., Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal ORCID: 0000-0002-8359-518X, Truong, Therese ORCID: 0000-0002-2943-6786, Bojesen, Stig E., Flyger, Henrik, Benitez, Javier, Gonzalez-Neira, Anna, Anton-Culver, Hoda, Neuhausen, Susan L., Arndt, Volker ORCID: 0000-0001-9320-8684, Brenner, Hermann ORCID: 0000-0002-6129-1572, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K., Arnold, Norbert ORCID: 0000-0003-4523-8808, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Hamann, Ute, Chang-Claude, Jenny, Khan, Sofia ORCID: 0000-0003-4185-8882, Nevanlinna, Heli, Ito, Hidemi, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Bogdanova, Natalia V., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-Chen, Wu, Anna H., Floris, Giuseppe, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Rudolph, Anja, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Radice, Paolo ORCID: 0000-0001-6298-4111, Couch, Fergus J., Vachon, Celine, Giles, Graham G., McLean, Catriona, Milne, Roger L., Dugue, Pierre-Antoine, Haiman, Christopher A., Maskarinec, Gertraud, Woolcott, Christy, Henderson, Brian E., Goldberg, Mark S., Simard, Jacques, Teo, Soo H., Mariapun, Shivaani, Helland, Aslaug ORCID: 0000-0002-5520-0275, Haakensen, Vilde, Zheng, Wei ORCID: 0000-0003-1226-070X, Beeghly-Fadiel, Alicia, Tamimi, Rulla, Jukkola-Vuorinen, Aria, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter ORCID: 0000-0002-8023-2009, Tollenaar, Robert A. E. M., Figueroa, Jonine, Garcia-Closas, Montserrat, Czene, Kamila, Hooning, Maartje J., Tilanus-Linthorst, Madeleine, Li, Jingmei ORCID: 0000-0001-8587-7511, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Luben, Robert, Khaw, Kay-Tee, Choi, Ji-Yeob, Kang, Daehee ORCID: 0000-0003-4031-5878, Hartman, Mikael ORCID: 0000-0001-5726-9965, Lim, Wei Yen, Kabisch, Maria, Torres, Diana, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, McKay, James, Sangrajrang, Suleeporn, Toland, Amanda E., Yannoukakos, Drakoulis ORCID: 0000-0001-7509-3510, Shen, Chen-Yang, Yu, Jyh-Cherng, Ziogas, Argyrios, Schoemaker, Minouk J., Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Borresen-Dale, Anne-Lise, Kristensen, Vessela, French, Juliet D., Edwards, Stacey L., Dunning, Alison M., Easton, Douglas F., Hal, Per and Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 (2015). Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. Am. J. Hum. Genet., 97 (1). S. 22 - 35. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Full text not available from this repository.

Abstract

Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 10.82-0.881) and ER-negative (OR = 0.87 [0.82-0.911) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:0) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 10.91-0.951 and OR = 1.06 [1.03-1.091) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.131) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.961). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Darabi, HatefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mccue, KarenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beesley, JonathanUNSPECIFIEDorcid.org/0000-0003-1942-325XUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Nord, SiljeUNSPECIFIEDorcid.org/0000-0002-3271-5356UNSPECIFIED
Kar, SiddharthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Humphreys, KeithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thompson, DeborahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ghoussaini, MayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Canisius, SanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, Christopher G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Apicella, CarmelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stone, JenniferUNSPECIFIEDorcid.org/0000-0001-5077-0124UNSPECIFIED
Broeks, AnnegienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, Rodney J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lophatananon, ArtitayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muir, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ekici, Arif B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heusinger, KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
dos-Santos-Silva, IsabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marme, FrederikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Truong, ThereseUNSPECIFIEDorcid.org/0000-0002-2943-6786UNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, NorbertUNSPECIFIEDorcid.org/0000-0003-4523-8808UNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khan, SofiaUNSPECIFIEDorcid.org/0000-0003-4185-8882UNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ito, HidemiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDorcid.org/0000-0003-1761-6314UNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doerk, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tseng, Chiu-ChenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, Anna H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Floris, GiuseppeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, CelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McLean, CatrionaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dugue, Pierre-AntoineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maskarinec, GertraudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woolcott, ChristyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henderson, Brian E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldberg, Mark S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mariapun, ShivaaniUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helland, AslaugUNSPECIFIEDorcid.org/0000-0002-5520-0275UNSPECIFIED
Haakensen, VildeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
Beeghly-Fadiel, AliciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tamimi, RullaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jukkola-Vuorinen, AriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knight, Julia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Tollenaar, Robert A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueroa, JonineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hooning, Maartje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tilanus-Linthorst, MadeleineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDorcid.org/0000-0001-8587-7511UNSPECIFIED
Gao, Yu-TangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luben, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khaw, Kay-TeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDorcid.org/0000-0003-4031-5878UNSPECIFIED
Hartman, MikaelUNSPECIFIEDorcid.org/0000-0001-5726-9965UNSPECIFIED
Lim, Wei YenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kabisch, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
McKay, JamesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sangrajrang, SuleepornUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toland, Amanda E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yannoukakos, DrakoulisUNSPECIFIEDorcid.org/0000-0001-7509-3510UNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yu, Jyh-CherngUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ziogas, ArgyriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoemaker, Minouk J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Borresen-Dale, Anne-LiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
French, Juliet D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Edwards, Stacey L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hal, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
URN: urn:nbn:de:hbz:38-399054
DOI: 10.1016/j.ajhg.2015.05.002
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 97
Number: 1
Page Range: S. 22 - 35
Date: 2015
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 1537-6605
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; MAMMOGRAPHIC DENSITY; COMMON VARIANTS; GENOTYPE IMPUTATION; ZNF365; TUMORS; ARCHITECTURE; STABILITY; AUTOPHAGYMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/39905

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