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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; Beckmann, Matthias W; 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 G; 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 H; 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.
I:
Scientific Reports, Bind 6, 32512, 2016, s. 1-14.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Darabi, H, Beesley, J, Droit, A, Kar, S, Nord, S, Moradi Marjaneh, M, Soucy, P, Michailidou, K, Ghoussaini, M, Fues Wahl, H, 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, Brüning, T, Burwinkel, B, Chang-Claude, J, Choi, J-Y, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Dörk, T, Easton, DF, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, García-Closas, M, Giles, GG, Goldberg, MS, González-Neira, A, Guénel, P, Haiman, CA, Hallberg, E, Hamann, U, Hartman, M, Hollestelle, A, Hopper, JL, Ito, H, Jakubowska, A, Johnson, N, Kang, D, Khan, S, Kosma, V-M, 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, Pylkäs, K, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Seynaeve, C, Shah, M, Shen, C-Y, Shu, X-O, 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, P-E, Yip, CH, Zheng, W, Pharoah, PDP, Hall, P, Edwards, SL, Simard, J, French, JD, Chenevix-Trench, G & Dunning, AM 2016, '
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)',
Scientific Reports, bind 6, 32512, s. 1-14.
https://doi.org/10.1038/srep32512APA
Darabi, H., Beesley, J., Droit, A., Kar, S., Nord, S., Moradi Marjaneh, M., Soucy, P., Michailidou, K., Ghoussaini, M., Fues Wahl, H., Bolla, M. K., Wang, Q., Dennis, J., Alonso, M. R., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Benitez, J., ... 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, 1-14. [32512].
https://doi.org/10.1038/srep32512Vancouver
Darabi H, Beesley J, Droit A, Kar S, Nord S, Moradi Marjaneh M o.a.
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Scientific Reports. 2016;6:1-14. 32512.
https://doi.org/10.1038/srep32512Author
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 ; Beckmann, Matthias W ; 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 G ; 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 H ; 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. / Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). I: Scientific Reports. 2016 ; Bind 6. s. 1-14.
Bibtex
@article{a8642a57bb0840aeafb3a5914e5c32b5,
title = "Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)",
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 × 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.",
keywords = "Journal Article",
author = "Hatef Darabi and Jonathan Beesley and Arnaud Droit and Siddhartha Kar and Silje Nord and {Moradi Marjaneh}, Mahdi and Penny Soucy and Kyriaki Michailidou and Maya Ghoussaini and {Fues Wahl}, Hanna and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Alonso, {M Rosario} and Andrulis, {Irene L} and Hoda Anton-Culver and Volker Arndt and Beckmann, {Matthias W} and Javier Benitez and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Hiltrud Brauch and Hermann Brenner and Annegien Broeks and Thomas Br{\"u}ning and Barbara Burwinkel and Jenny Chang-Claude and Ji-Yeob Choi and Conroy, {Don M} and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Kamila Czene and Peter Devilee and Thilo D{\"o}rk and Easton, {Douglas F} and Fasching, {Peter A} and Jonine Figueroa and Olivia Fletcher and Henrik Flyger and Eva Galle and Montserrat Garc{\'i}a-Closas and Giles, {Graham G} and Goldberg, {Mark S} and Anna Gonz{\'a}lez-Neira and Pascal Gu{\'e}nel and Haiman, {Christopher A} and Emily Hallberg and Ute Hamann and Mikael Hartman and Antoinette Hollestelle and Hopper, {John L} and Hidemi Ito and Anna Jakubowska and Nichola Johnson and Daehee Kang and Sofia Khan and Veli-Matti Kosma and Mieke Kriege and Vessela Kristensen and Diether Lambrechts and {Le Marchand}, Loic and Lee, {Soo Chin} and Annika Lindblom and Artitaya Lophatananon and Jan Lubinski and Arto Mannermaa and Siranoush Manoukian and Sara Margolin and Keitaro Matsuo and Rebecca Mayes and James McKay and Alfons Meindl and Milne, {Roger L} and Kenneth Muir and Neuhausen, {Susan L} and Heli Nevanlinna and Curtis Olswold and Nick Orr and Paolo Peterlongo and Guillermo Pita and Katri Pylk{\"a}s and Anja Rudolph and Suleeporn Sangrajrang and Sawyer, {Elinor J} and Schmidt, {Marjanka K} and Schmutzler, {Rita K} and Caroline Seynaeve and Mitul Shah and Chen-Yang Shen and Xiao-Ou Shu and Southey, {Melissa C} and Stram, {Daniel O} and Harald Surowy and Anthony Swerdlow and Teo, {Soo H} and Tessier, {Daniel C} and Ian Tomlinson and Diana Torres and Th{\'e}r{\`e}se Truong and Vachon, {Celine M} and Daniel Vincent and Robert Winqvist and Wu, {Anna H} and Pei-Ei Wu and Yip, {Cheng Har} and Wei Zheng and Pharoah, {Paul D P} and Per Hall and Edwards, {Stacey L} and Jacques Simard and French, {Juliet D} and Georgia Chenevix-Trench and Dunning, {Alison M}",
year = "2016",
doi = "10.1038/srep32512",
language = "English",
volume = "6",
pages = "1--14",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "nature publishing group",
}
RIS
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 - Beckmann, Matthias W
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 G
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 H
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
Y1 - 2016
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 - Journal article
C2 - 27600471
VL - 6
SP - 1
EP - 14
JO - Scientific Reports
JF - Scientific Reports
SN - 2045-2322
M1 - 32512
ER -
