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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06110naa a2201621 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:134156509 | |
| 003 | SwePub | |
| 008 | 240701s2016 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1341565092 URI |
| 024 | 7 | a https://doi.org/10.1038/srep325122 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Darabi, H4 aut |
| 245 | 1 0 | a Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs) |
| 264 | c 2016-09-07 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2016 |
| 520 | a Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90–0.94; P = 8.96 × 10−15)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10−09, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10−11, r2 = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. | |
| 700 | 1 | a Beesley, J4 aut |
| 700 | 1 | a Droit, A4 aut |
| 700 | 1 | a Kar, S4 aut |
| 700 | 1 | a Nord, S4 aut |
| 700 | 1 | a Marjaneh, MM4 aut |
| 700 | 1 | a Soucy, P4 aut |
| 700 | 1 | a Michailidou, K4 aut |
| 700 | 1 | a Ghoussaini, M4 aut |
| 700 | 1 | a Wahl, HF4 aut |
| 700 | 1 | a Bolla, MK4 aut |
| 700 | 1 | a Wang, Q4 aut |
| 700 | 1 | a Dennis, J4 aut |
| 700 | 1 | a Alonso, MR4 aut |
| 700 | 1 | a Andrulis, IL4 aut |
| 700 | 1 | a Anton-Culver, H4 aut |
| 700 | 1 | a Arndt, V4 aut |
| 700 | 1 | a Beckmann, MW4 aut |
| 700 | 1 | a Benitez, J4 aut |
| 700 | 1 | a Bogdanova, NV4 aut |
| 700 | 1 | a Bojesen, SE4 aut |
| 700 | 1 | a Brauch, H4 aut |
| 700 | 1 | a Brenner, H4 aut |
| 700 | 1 | a Broeks, A4 aut |
| 700 | 1 | a Bruning, T4 aut |
| 700 | 1 | a Burwinkel, B4 aut |
| 700 | 1 | a Chang-Claude, J4 aut |
| 700 | 1 | a Choi, JY4 aut |
| 700 | 1 | a Conroy, DM4 aut |
| 700 | 1 | a Couch, FJ4 aut |
| 700 | 1 | a Cox, A4 aut |
| 700 | 1 | a Cross, SS4 aut |
| 700 | 1 | a Czene, Ku Karolinska Institutet4 aut |
| 700 | 1 | a Devilee, P4 aut |
| 700 | 1 | a Dork, T4 aut |
| 700 | 1 | a Easton, DF4 aut |
| 700 | 1 | a Fasching, PA4 aut |
| 700 | 1 | a Figueroa, J4 aut |
| 700 | 1 | a Fletcher, O4 aut |
| 700 | 1 | a Flyger, H4 aut |
| 700 | 1 | a Galle, E4 aut |
| 700 | 1 | a Garcia-Closas, M4 aut |
| 700 | 1 | a Giles, GG4 aut |
| 700 | 1 | a Goldberg, MS4 aut |
| 700 | 1 | a Gonzalez-Neira, A4 aut |
| 700 | 1 | a Guenel, P4 aut |
| 700 | 1 | a Haiman, CA4 aut |
| 700 | 1 | a Hallberg, E4 aut |
| 700 | 1 | a Hamann, U4 aut |
| 700 | 1 | a Hartman, M4 aut |
| 700 | 1 | a Hollestelle, A4 aut |
| 700 | 1 | a Hopper, JL4 aut |
| 700 | 1 | a Ito, H4 aut |
| 700 | 1 | a Jakubowska, A4 aut |
| 700 | 1 | a Johnson, N4 aut |
| 700 | 1 | a Kang, D4 aut |
| 700 | 1 | a Khan, S4 aut |
| 700 | 1 | a Kosma, VM4 aut |
| 700 | 1 | a Kriege, M4 aut |
| 700 | 1 | a Kristensen, V4 aut |
| 700 | 1 | a Lambrechts, D4 aut |
| 700 | 1 | a Le Marchand, L4 aut |
| 700 | 1 | a Lee, SC4 aut |
| 700 | 1 | a Lindblom, Au Karolinska Institutet4 aut |
| 700 | 1 | a Lophatananon, A4 aut |
| 700 | 1 | a Lubinski, J4 aut |
| 700 | 1 | a Mannermaa, A4 aut |
| 700 | 1 | a Manoukian, S4 aut |
| 700 | 1 | a Margolin, Su Karolinska Institutet4 aut |
| 700 | 1 | a Matsuo, K4 aut |
| 700 | 1 | a Mayes, R4 aut |
| 700 | 1 | a Mckay, J4 aut |
| 700 | 1 | a Meindl, A4 aut |
| 700 | 1 | a Milne, RL4 aut |
| 700 | 1 | a Muir, K4 aut |
| 700 | 1 | a Neuhausen, SL4 aut |
| 700 | 1 | a Nevanlinna, H4 aut |
| 700 | 1 | a Olswold, C4 aut |
| 700 | 1 | a Orr, N4 aut |
| 700 | 1 | a Peterlongo, P4 aut |
| 700 | 1 | a Pita, G4 aut |
| 700 | 1 | a Pylkas, K4 aut |
| 700 | 1 | a Rudolph, A4 aut |
| 700 | 1 | a Sangrajrang, S4 aut |
| 700 | 1 | a Sawyer, EJ4 aut |
| 700 | 1 | a Schmidt, MK4 aut |
| 700 | 1 | a Schmutzler, RK4 aut |
| 700 | 1 | a Seynaeve, C4 aut |
| 700 | 1 | a Shah, M4 aut |
| 700 | 1 | a Shen, CY4 aut |
| 700 | 1 | a Shu, XO4 aut |
| 700 | 1 | a Southey, MC4 aut |
| 700 | 1 | a Stram, DO4 aut |
| 700 | 1 | a Surowy, H4 aut |
| 700 | 1 | a Swerdlow, A4 aut |
| 700 | 1 | a Teo, SH4 aut |
| 700 | 1 | a Tessier, DC4 aut |
| 700 | 1 | a Tomlinson, I4 aut |
| 700 | 1 | a Torres, D4 aut |
| 700 | 1 | a Truong, T4 aut |
| 700 | 1 | a Vachon, CM4 aut |
| 700 | 1 | a Vincent, D4 aut |
| 700 | 1 | a Winqvist, R4 aut |
| 700 | 1 | a Wu, AH4 aut |
| 700 | 1 | a Wu, PE4 aut |
| 700 | 1 | a Yip, CH4 aut |
| 700 | 1 | a Zheng, W4 aut |
| 700 | 1 | a Pharoah, PDP4 aut |
| 700 | 1 | a Hall, Pu Karolinska Institutet4 aut |
| 700 | 1 | a Edwards, SL4 aut |
| 700 | 1 | a Simard, J4 aut |
| 700 | 1 | a French, JD4 aut |
| 700 | 1 | a Chenevix-Trench, G4 aut |
| 700 | 1 | a Dunning, AM4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Scientific reportsd : Springer Science and Business Media LLCg 6, s. 32512-q 6<32512-x 2045-2322 |
| 856 | 4 | u https://www.nature.com/articles/srep32512.pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:134156509 |
| 856 | 4 8 | u https://doi.org/10.1038/srep32512 |
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- Darabi, H
- Beesley, J
- Droit, A
- Kar, S
- Nord, S
- Marjaneh, MM
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- Soucy, P
- Michailidou, K
- Ghoussaini, M
- Wahl, HF
- Bolla, MK
- Wang, Q
- Dennis, J
- Alonso, MR
- Andrulis, IL
- Anton-Culver, H
- Arndt, V
- Beckmann, MW
- Benitez, J
- Bogdanova, NV
- Bojesen, SE
- Brauch, H
- Brenner, H
- Broeks, A
- Bruning, T
- Burwinkel, B
- Chang-Claude, J
- Choi, JY
- Conroy, DM
- Couch, FJ
- Cox, A
- Cross, SS
- Czene, K
- Devilee, P
- Dork, T
- Easton, DF
- Fasching, PA
- Figueroa, J
- Fletcher, O
- Flyger, H
- Galle, E
- Garcia-Closas, M
- Giles, GG
- Goldberg, MS
- Gonzalez-Neira, ...
- Guenel, P
- Haiman, CA
- Hallberg, E
- Hamann, U
- Hartman, M
- Hollestelle, A
- Hopper, JL
- Ito, H
- Jakubowska, A
- Johnson, N
- Kang, D
- Khan, S
- Kosma, VM
- Kriege, M
- Kristensen, V
- Lambrechts, D
- Le Marchand, L
- Lee, SC
- Lindblom, A
- Lophatananon, A
- Lubinski, J
- Mannermaa, A
- Manoukian, S
- Margolin, S
- Matsuo, K
- Mayes, R
- Mckay, J
- Meindl, A
- Milne, RL
- Muir, K
- Neuhausen, SL
- Nevanlinna, H
- Olswold, C
- Orr, N
- Peterlongo, P
- Pita, G
- Pylkas, K
- Rudolph, A
- Sangrajrang, S
- Sawyer, EJ
- Schmidt, MK
- Schmutzler, RK
- Seynaeve, C
- Shah, M
- Shen, CY
- Shu, XO
- Southey, MC
- Stram, DO
- Surowy, H
- Swerdlow, A
- Teo, SH
- Tessier, DC
- Tomlinson, I
- Torres, D
- Truong, T
- Vachon, CM
- Vincent, D
- Winqvist, R
- Wu, AH
- Wu, PE
- Yip, CH
- Zheng, W
- Pharoah, PDP
- Hall, P
- Edwards, SL
- Simard, J
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