Horne, Hisani N., Chung, Charles C., Zhang, Han ORCID: 0000-0001-7977-9616, Yu, Kai, Prokunina-Olsson, Ludmila ORCID: 0000-0002-9622-2091, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Fletcher, Olivia ORCID: 0000-0001-9387-7116, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal ORCID: 0000-0002-8359-518X, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Benitez, Javier, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann ORCID: 0000-0002-6129-1572, Arndt, Volker ORCID: 0000-0001-9320-8684, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Hamann, Ute, Nevanlinna, Heli, Khan, Sofia ORCID: 0000-0003-4185-8882, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Iwata, Hiroji, Dork, Thilo ORCID: 0000-0002-9458-0282, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Wu, Anna H., den Berg, David Ven, Smeets, Ann, Zhao, Hui, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo ORCID: 0000-0001-6298-4111, Barile, Monica, Couch, Fergus J., Vachon, Celine, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Le Marchand, Loic, Goldberg, Mark S., Teo, Soo H., Taib, Nur A. M., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei ORCID: 0000-0003-1226-070X, Shrubsole, Martha, Winqvist, Robert, Jukkola-Vuorinen, Arja, Andrulis, Irene L., Knight, Julia A., Devilee, Peter ORCID: 0000-0002-8023-2009, Seynaeve, Caroline, Garcia-Closas, Montserrat, Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, Martens, John W. M., Li, Jingmei ORCID: 0000-0001-8587-7511, Lu, Wei, Shu, Xiao-Ou, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Blot, William, Cai, Qiuyin, Shah, Mitul, Luccarini, Craig, Baynes, Caroline, Harrington, Patricia, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael ORCID: 0000-0001-5726-9965, Chia, Kee Seng, Kabisch, Maria, Torres, Diana, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Sangrajrang, Suleeporn, Brennan, Paul, Slager, Susan, Yannoukakos, Drakoulis ORCID: 0000-0001-7509-3510, Shen, Chen-Yang, Hou, Ming-Feng ORCID: 0000-0001-6030-9702, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Orr, Nick, Simard, Jacques, Hall, Per, Pharoah, Paul D. P., Easton, Douglas F., Chanock, Stephen J., Dunning, Alison M. and Figueroa, Jonine D. (2016). Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus. PLoS One, 11 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Full text not available from this repository.

Abstract

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Perallelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10(-21)). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P <= 8.41 x 10(-5)). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Horne, Hisani N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chung, Charles C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhang, HanUNSPECIFIEDorcid.org/0000-0001-7977-9616UNSPECIFIED
Yu, KaiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Prokunina-Olsson, LudmilaUNSPECIFIEDorcid.org/0000-0002-9622-2091UNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Broeks, AnnegienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muir, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lophatananon, ArtitayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDorcid.org/0000-0001-9387-7116UNSPECIFIED
Johnson, NicholaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marme, FrederikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Truong, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDorcid.org/0000-0002-5421-2020UNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khan, SofiaUNSPECIFIEDorcid.org/0000-0003-4185-8882UNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDorcid.org/0000-0003-1761-6314UNSPECIFIED
Iwata, HirojiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dork, ThiloUNSPECIFIEDorcid.org/0000-0002-9458-0282UNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Wu, Anna H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
den Berg, David VenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smeets, AnnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhao, HuiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Barile, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, CelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldberg, Mark S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Taib, Nur A. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borresen-Dale, Anne-LiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
Shrubsole, MarthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jukkola-Vuorinen, ArjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knight, Julia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Seynaeve, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Darabi, HatefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martens, John W. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDorcid.org/0000-0001-8587-7511UNSPECIFIED
Lu, WeiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blot, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cai, QiuyinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luccarini, CraigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baynes, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harrington, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartman, MikaelUNSPECIFIEDorcid.org/0000-0001-5726-9965UNSPECIFIED
Chia, Kee SengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kabisch, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Sangrajrang, SuleepornUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brennan, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Slager, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yannoukakos, DrakoulisUNSPECIFIEDorcid.org/0000-0001-7509-3510UNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hou, Ming-FengUNSPECIFIEDorcid.org/0000-0001-6030-9702UNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Orr, NickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueroa, Jonine D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-266344
DOI: 10.1371/journal.pone.0160316
Journal or Publication Title: PLoS One
Volume: 11
Number: 8
Date: 2016
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1932-6203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; COMMON VARIANTS; CONFER SUSCEPTIBILITY; GENETIC-VARIATION; 14Q24.1 RAD51L1; RISK; HETEROGENEITY; ALLELES; DISEASEMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/26634

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