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Title: Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
Authors: Darabi, H
Beesley, J
Droit, A
Kar, S
Nord, S
Marjaneh, M.M
Soucy, P
Michailidou, K
Ghoussaini, M
Wahl, H.F
Bolla, M.K
Wang, Q
Dennis, J
Alonso, M.R
Andrulis, I.L
Anton-Culver, H
Arndt, V
Beckmann, M.W
Benitez, J
Bogdanova, N.V
Bojesen, S.E
Brauch, H
Brenner, H
Broeks, A
Brüning, T
Burwinkel, B
Chang-Claude, J
Choi, J.-Y
Conroy, D.M
Couch, F.J
Cox, A
Cross, S.S
Czene, K
Devilee, P
Dörk, T
Easton, D.F
Fasching, P.A
Figueroa, J
Fletcher, O
Flyger, H
Galle, E
García-Closas, M
Giles, G.G
Goldberg, M.S
González-Neira, A
Guénel, P
Haiman, C.A
Hallberg, E
Hamann, U
Hartman, M 
Hollestelle, A
Hopper, J.L
Ito, H
Jakubowska, A
Johnson, N
Kang, D
Khan, S
Kosma, V.-M
Kriege, M
Kristensen, V
Lambrechts, D
Le Marchand, L
Lee, S.C 
Lindblom, A
Lophatananon, A
Lubinski, J
Mannermaa, A
Manoukian, S
Margolin, S
Matsuo, K
Mayes, R
McKay, J
Meindl, A
Milne, R.L
Muir, K
Neuhausen, S.L
Nevanlinna, H
Olswold, C
Orr, N
Peterlongo, P
Pita, G
Pylkäs, K
Rudolph, A
Sangrajrang, S
Sawyer, E.J
Schmidt, M.K
Schmutzler, R.K
Seynaeve, C
Shah, M
Shen, C.-Y
Shu, X.-O
Southey, M.C
Stram, D.O
Surowy, H
Swerdlow, A
Teo, S.H
Tessier, D.C
Tomlinson, I
Torres, D
Truong, T
Vachon, C.M
Vincent, D
Winqvist, R
Wu, A.H
Wu, P.-E
Yip, C.H
Zheng, W
Pharoah, P.D.P
Hall, P
Edwards, S.L
Simard, J
French, J.D
Chenevix-Trench, G
Dunning, A.M
Keywords: STXBP4 protein, human
vesicular transport protein
breast tumor
chromosomal mapping
chromosome 17
genetic predisposition
genome-wide association study
quantitative trait locus
single nucleotide polymorphism
Breast Neoplasms
Chromosome Mapping
Chromosomes, Human, Pair 17
European Continental Ancestry Group
Genetic Predisposition to Disease
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Vesicular Transport Proteins
Issue Date: 2016
Citation: Darabi, H, Beesley, J, Droit, A, Kar, S, Nord, S, Marjaneh, M.M, Soucy, P, Michailidou, K, Ghoussaini, M, Wahl, H.F, Bolla, M.K, Wang, Q, Dennis, J, Alonso, M.R, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Benitez, J, Bogdanova, N.V, Bojesen, S.E, Brauch, H, Brenner, H, Broeks, A, Brüning, T, Burwinkel, B, Chang-Claude, J, Choi, J.-Y, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Easton, D.F, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, García-Closas, M, Giles, G.G, Goldberg, M.S, González-Neira, A, Guénel, P, Haiman, C.A, Hallberg, E, Hamann, U, Hartman, M, Hollestelle, A, Hopper, J.L, Ito, H, Jakubowska, A, Johnson, N, Kang, D, Khan, S, Kosma, V.-M, Kriege, M, Kristensen, V, Lambrechts, D, Le Marchand, L, Lee, S.C, Lindblom, A, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Mayes, R, McKay, J, Meindl, A, Milne, R.L, Muir, K, Neuhausen, S.L, Nevanlinna, H, Olswold, C, Orr, N, Peterlongo, P, Pita, G, Pylkäs, K, Rudolph, A, Sangrajrang, S, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Seynaeve, C, Shah, M, Shen, C.-Y, Shu, X.-O, Southey, M.C, Stram, D.O, Surowy, H, Swerdlow, A, Teo, S.H, Tessier, D.C, Tomlinson, I, Torres, D, Truong, T, Vachon, C.M, Vincent, D, Winqvist, R, Wu, A.H, Wu, P.-E, Yip, C.H, Zheng, W, Pharoah, P.D.P, Hall, P, Edwards, S.L, Simard, J, French, J.D, Chenevix-Trench, G, Dunning, A.M (2016). Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). Scientific Reports 6 : 32512. ScholarBank@NUS Repository.
Abstract: 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 × 1015)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 1009, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 1011, 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. © 2016 The Author(s).
Source Title: Scientific Reports
ISSN: 20452322
DOI: 10.1038/srep32512
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