Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). / Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Benitez, Javier; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Choi, Ji-Yeob; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Easton, Douglas F; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham; Goldberg, Mark S; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hallberg, Emily; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kang, Daehee; Khan, Sofia; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Lambrechts, Diether; Le Marchand, Loic; Lee, Soo Chin; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mayes, Rebecca; McKay, James; Meindl, Alfons; Milne, Roger L; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Olswold, Curtis; Orr, Nick; Peterlongo, Paolo; Pita, Guillermo; Pylkäs, Katri; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Stram, Daniel O; Surowy, Harald; Swerdlow, Anthony; Teo, Soo-Hwang; Tessier, Daniel C; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine M; Vincent, Daniel; Winqvist, Robert; Wu, Anna H; Wu, Pei-Ei; Yip, Cheng Har; Zheng, Wei; Pharoah, Paul D P; Hall, Per; Edwards, Stacey L; Simard, Jacques; French, Juliet D; Chenevix-Trench, Georgia; Dunning, Alison M.
In: SCI REP-UK, Vol. 6, 07.09.2016, p. 32512.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
AU - Darabi, Hatef
AU - Beesley, Jonathan
AU - Droit, Arnaud
AU - Kar, Siddhartha
AU - Nord, Silje
AU - Moradi Marjaneh, Mahdi
AU - Soucy, Penny
AU - Michailidou, Kyriaki
AU - Ghoussaini, Maya
AU - Fues Wahl, Hanna
AU - Bolla, Manjeet K
AU - Wang, Qin
AU - Dennis, Joe
AU - Alonso, M Rosario
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Arndt, Volker
AU - Benitez, Javier
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Broeks, Annegien
AU - Brüning, Thomas
AU - Burwinkel, Barbara
AU - Chang-Claude, Jenny
AU - Choi, Ji-Yeob
AU - Conroy, Don M
AU - Couch, Fergus J
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Devilee, Peter
AU - Dörk, Thilo
AU - Easton, Douglas F
AU - Fasching, Peter A
AU - Figueroa, Jonine
AU - Fletcher, Olivia
AU - Flyger, Henrik
AU - Galle, Eva
AU - García-Closas, Montserrat
AU - Giles, Graham
AU - Goldberg, Mark S
AU - González-Neira, Anna
AU - Guénel, Pascal
AU - Haiman, Christopher A
AU - Hallberg, Emily
AU - Hamann, Ute
AU - Hartman, Mikael
AU - Hollestelle, Antoinette
AU - Hopper, John L
AU - Ito, Hidemi
AU - Jakubowska, Anna
AU - Johnson, Nichola
AU - Kang, Daehee
AU - Khan, Sofia
AU - Kosma, Veli-Matti
AU - Kriege, Mieke
AU - Kristensen, Vessela
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Lee, Soo Chin
AU - Lindblom, Annika
AU - Lophatananon, Artitaya
AU - Lubinski, Jan
AU - Mannermaa, Arto
AU - Manoukian, Siranoush
AU - Margolin, Sara
AU - Matsuo, Keitaro
AU - Mayes, Rebecca
AU - McKay, James
AU - Meindl, Alfons
AU - Milne, Roger L
AU - Muir, Kenneth
AU - Neuhausen, Susan L
AU - Nevanlinna, Heli
AU - Olswold, Curtis
AU - Orr, Nick
AU - Peterlongo, Paolo
AU - Pita, Guillermo
AU - Pylkäs, Katri
AU - Rudolph, Anja
AU - Sangrajrang, Suleeporn
AU - Sawyer, Elinor J
AU - Schmidt, Marjanka K
AU - Schmutzler, Rita K
AU - Seynaeve, Caroline
AU - Shah, Mitul
AU - Shen, Chen-Yang
AU - Shu, Xiao-Ou
AU - Southey, Melissa C
AU - Stram, Daniel O
AU - Surowy, Harald
AU - Swerdlow, Anthony
AU - Teo, Soo-Hwang
AU - Tessier, Daniel C
AU - Tomlinson, Ian
AU - Torres, Diana
AU - Truong, Thérèse
AU - Vachon, Celine M
AU - Vincent, Daniel
AU - Winqvist, Robert
AU - Wu, Anna H
AU - Wu, Pei-Ei
AU - Yip, Cheng Har
AU - Zheng, Wei
AU - Pharoah, Paul D P
AU - Hall, Per
AU - Edwards, Stacey L
AU - Simard, Jacques
AU - French, Juliet D
AU - Chenevix-Trench, Georgia
AU - Dunning, Alison M
PY - 2016/9/7
Y1 - 2016/9/7
N2 - 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), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 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.
AB - 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), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 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.
KW - Journal Article
U2 - 10.1038/srep32512
DO - 10.1038/srep32512
M3 - SCORING: Journal article
C2 - 27600471
VL - 6
SP - 32512
JO - SCI REP-UK
JF - SCI REP-UK
SN - 2045-2322
ER -