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: |
Creators | Email | ORCID | ORCID Put Code |
---|
Darabi, Hatef | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mccue, Karen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beesley, Jonathan | UNSPECIFIED | orcid.org/0000-0003-1942-325X | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Nord, Silje | UNSPECIFIED | orcid.org/0000-0002-3271-5356 | UNSPECIFIED | Kar, Siddhartha | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Humphreys, Keith | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thompson, Deborah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ghoussaini, Maya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Canisius, Sander | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scott, Christopher G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Apicella, Carmel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stone, Jennifer | UNSPECIFIED | orcid.org/0000-0001-5077-0124 | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scott, Rodney J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lophatananon, Artitaya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Muir, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ekici, Arif B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Heusinger, Katharina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | dos-Santos-Silva, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tomlinson, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | 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 | orcid.org/0000-0002-2943-6786 | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Neuhausen, Susan L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Engel, Christoph | UNSPECIFIED | orcid.org/0000-0002-7247-282X | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arnold, Norbert | UNSPECIFIED | orcid.org/0000-0003-4523-8808 | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Khan, Sofia | UNSPECIFIED | orcid.org/0000-0003-4185-8882 | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ito, Hidemi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Matsuo, Keitaro | UNSPECIFIED | orcid.org/0000-0003-1761-6314 | UNSPECIFIED | Bogdanova, Natalia V. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Doerk, Thilo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kosma, Veli-Matti | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mannermaa, Arto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tseng, Chiu-Chen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wu, Anna H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Floris, Giuseppe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambrechts, Diether | UNSPECIFIED | orcid.org/0000-0002-3429-302X | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vachon, Celine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | McLean, Catriona | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dugue, Pierre-Antoine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Maskarinec, Gertraud | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Woolcott, Christy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Henderson, Brian E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mariapun, Shivaani | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Helland, Aslaug | UNSPECIFIED | orcid.org/0000-0002-5520-0275 | UNSPECIFIED | Haakensen, Vilde | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zheng, Wei | UNSPECIFIED | orcid.org/0000-0003-1226-070X | UNSPECIFIED | Beeghly-Fadiel, Alicia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tamimi, Rulla | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jukkola-Vuorinen, Aria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Winqvist, Robert | 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 | Tollenaar, Robert A. E. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Figueroa, Jonine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Closas, Montserrat | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hooning, Maartje J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tilanus-Linthorst, Madeleine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Li, Jingmei | UNSPECIFIED | orcid.org/0000-0001-8587-7511 | UNSPECIFIED | Gao, Yu-Tang | 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 | Luben, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Khaw, Kay-Tee | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Choi, Ji-Yeob | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kang, Daehee | UNSPECIFIED | orcid.org/0000-0003-4031-5878 | UNSPECIFIED | Hartman, Mikael | UNSPECIFIED | orcid.org/0000-0001-5726-9965 | UNSPECIFIED | Lim, Wei Yen | 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 | McKay, James | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sangrajrang, Suleeporn | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Toland, Amanda E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yannoukakos, Drakoulis | UNSPECIFIED | orcid.org/0000-0001-7509-3510 | UNSPECIFIED | Shen, Chen-Yang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yu, Jyh-Cherng | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ziogas, Argyrios | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schoemaker, Minouk J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Swerdlow, Anthony | UNSPECIFIED | orcid.org/0000-0001-5550-4159 | UNSPECIFIED | Borresen-Dale, Anne-Lise | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | French, Juliet D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Edwards, Stacey L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dunning, Alison M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Easton, Douglas F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hal, Per | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chenevix-Trench, Georgia | UNSPECIFIED | orcid.org/0000-0002-1878-2587 | UNSPECIFIED |
|
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: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; MAMMOGRAPHIC DENSITY; COMMON VARIANTS; GENOTYPE IMPUTATION; ZNF365; TUMORS; ARCHITECTURE; STABILITY; AUTOPHAGY | Multiple languages | Genetics & Heredity | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/39905 |
Downloads per month over past year
Export