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
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Horne, Hisani N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chung, Charles C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zhang, Han | UNSPECIFIED | orcid.org/0000-0001-7977-9616 | UNSPECIFIED | Yu, Kai | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Prokunina-Olsson, Ludmila | UNSPECIFIED | orcid.org/0000-0002-9622-2091 | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Muir, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lophatananon, Artitaya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fletcher, Olivia | UNSPECIFIED | orcid.org/0000-0001-9387-7116 | UNSPECIFIED | Johnson, Nichola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tomlinson, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marme, Frederik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Truong, Therese | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | orcid.org/0000-0002-5421-2020 | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Neuhausen, Susan L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Khan, Sofia | UNSPECIFIED | orcid.org/0000-0003-4185-8882 | UNSPECIFIED | Matsuo, Keitaro | UNSPECIFIED | orcid.org/0000-0003-1761-6314 | UNSPECIFIED | Iwata, Hiroji | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dork, Thilo | UNSPECIFIED | orcid.org/0000-0002-9458-0282 | UNSPECIFIED | Bogdanova, Natalia V. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mannermaa, Arto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kosma, Veli-Matti | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chenevix-Trench, Georgia | UNSPECIFIED | orcid.org/0000-0002-1878-2587 | UNSPECIFIED | Wu, Anna H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | den Berg, David Ven | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Smeets, Ann | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zhao, Hui | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Barile, Monica | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vachon, Celine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Le Marchand, Loic | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Taib, Nur A. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Borresen-Dale, Anne-Lise | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zheng, Wei | UNSPECIFIED | orcid.org/0000-0003-1226-070X | UNSPECIFIED | Shrubsole, Martha | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Winqvist, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jukkola-Vuorinen, Arja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Knight, Julia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | orcid.org/0000-0002-8023-2009 | UNSPECIFIED | Seynaeve, Caroline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Closas, Montserrat | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Darabi, Hatef | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hollestelle, Antoinette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Martens, John W. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Li, Jingmei | UNSPECIFIED | orcid.org/0000-0001-8587-7511 | UNSPECIFIED | Lu, Wei | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shu, Xiao-Ou | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cox, Angela | UNSPECIFIED | orcid.org/0000-0002-5138-1099 | UNSPECIFIED | Cross, Simon S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blot, William | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cai, Qiuyin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shah, Mitul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Luccarini, Craig | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Baynes, Caroline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Harrington, Patricia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kang, Daehee | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Choi, Ji-Yeob | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hartman, Mikael | UNSPECIFIED | orcid.org/0000-0001-5726-9965 | UNSPECIFIED | Chia, Kee Seng | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kabisch, Maria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Torres, Diana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jakubowska, Anna | UNSPECIFIED | orcid.org/0000-0002-5650-0501 | UNSPECIFIED | Lubinski, Jan | UNSPECIFIED | orcid.org/0000-0003-2931-3003 | UNSPECIFIED | Sangrajrang, Suleeporn | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brennan, Paul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Slager, Susan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yannoukakos, Drakoulis | UNSPECIFIED | orcid.org/0000-0001-7509-3510 | UNSPECIFIED | Shen, Chen-Yang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hou, Ming-Feng | UNSPECIFIED | orcid.org/0000-0001-6030-9702 | UNSPECIFIED | Swerdlow, Anthony | UNSPECIFIED | orcid.org/0000-0001-5550-4159 | UNSPECIFIED | Orr, Nick | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hall, Per | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pharoah, Paul D. P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Easton, Douglas F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chanock, Stephen J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dunning, Alison M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Figueroa, Jonine D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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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: |
Keywords | Language |
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GENOME-WIDE ASSOCIATION; COMMON VARIANTS; CONFER SUSCEPTIBILITY; GENETIC-VARIATION; 14Q24.1 RAD51L1; RISK; HETEROGENEITY; ALLELES; DISEASE | Multiple languages | Multidisciplinary Sciences | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/26634 |
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