Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou; J Beesley; S Lindstrom; S Canisius; J Dennis; MJ Lush; MJ Maranian; MK Bolla; Q (Qing) Wang; M Shah; BJ Perkins; K Czene; M Eriksson; H Darabi; JS Brand; SE Bojesen; BG Nordestgaard; H Flyger; SF Nielsen; N Rahman; C Turnbull; O Fletcher; J Peto; L Gibson; I dos-Santos-Silva; J Chang-Claude; D Flesch-Janys; A Rudolph; U Eilber; S Behrens; H Nevanlinna; TA Muranen; K Aittomaki; C Blomqvist; Salima Khan; K Aaltonen; H Ahsan; MG Kibriya; AS Whittemore; EM John; KE Malone; MD Gammon; RM Santella; G Ursin; E Makalic; DF Schmidt; G Casey; DJ Hunter; SM Gapstur; MM Gaudet; WR Diver; CA Haiman; F Schumacher; BE Henderson; L Le Marchand; CD Berg; SJ Chanock; J Figueroa; RN Hoover; D Lambrechts; P Neven; H Wildiers; E van Limbergen; MK (Marjanka) Schmidt; A Broeks; S Verhoef; S Cornelissen; FJ Couch; JE Olson; E Hallberg; C Vachon; Q Waisfisz; H Meijers-Heijboer; MA (Muriel) Adank; RB van der Luijt; JM Li; JJ Liu; K Humphreys; D Kang; JY Choi; SK Park; KY Yoo; K Matsuo; H Ito; H Iwata; K Tajima; P Guenel; T Truong; C Mulot; M Sanchez; B Burwinkel; F Marme; H Surowy; C Sohn; AH Wu; CC Tseng; D van den Berg; DO Stram; A Gonzalez-Neira; J Benitez; MP Zamora; JIA Perez; XO Shu; W Lu; YT Gao; H Cai; A Cox; SS Cross; MWR Reed; IL Andrulis; JA Knight; G Glendon; AM Mulligan; EJ Sawyer; I Tomlinson; MJ Kerin; N Miller; A Lindblom; S Margolin; SH Teo; CH Yip; NAM Taib; GH Tan; Maartje Hooning; Antoinette Hollestelle; John Martens; Margriet Collee; W Blot; LB Signorello; QY Cai; JL Hopper; MC Southey; H Tsimiklis; C Apicella; CY Shen; CN Hsiung; PE Wu; MF Hou; VN Kristensen; S Nord; GIG Alnaes; GG Giles; RL Milne; C McLean; F Canzian; D Trichopoulos; P Peeters; E Lund; M Sund; KT Khaw; MJ Gunter; D Palli; LM Mortensen; L Dossus; JM Huerta; A Meindl; RK Schmutzler; C Sutter; R Yang; K Muir; A Lophatananon; S Stewart-Brown; P Siriwanarangsan; M Hartman; H Miao; KS Chia; CW Chan; PA Fasching; A Hein; MW Beckmann; L Haeberle; H Brenner; AK Dieffenbach; V Arndt; C Stegmaier; A Ashworth; N Orr; MJ Schoemaker; AJ Swerdlow; L Brinton; M Garcia-Closas; W Zheng; SL Halverson; M Shrubsole; J Long; MS Goldberg; F Labreche; M Dumont; R Winqvist; K Pylkas; A Jukkola-Vuorinen; M Grip; H Brauch; U Hamann; T Bruning; P Radice; P Peterlongo; S Manoukian; L Bernard; NV Bogdanova; T Dork; A Mannermaa; V Kataja; VM Kosma; JM Hartikainen; P Devilee; RAEM Tollenaar; Caroline Seynaeve; CJ van Asperen; A Jakubowska; J Lubinski; K Jaworska; T Huzarski; S Sangrajrang; V Gaborieau; P Brennan; J Mckay; S Slager; AE Toland; CB Ambrosone; D Yannoukakos; M Kabisch; D Torres; SL Neuhausen; H Anton-Culver; C Luccarini; C Baynes; S (Shahana) Ahmed; CS Healey; DC Tessier; D Vincent; F Bacot; G Pita; MR Alonso; N Alvarez; D Herrero; J Simard; PPDP Pharoah; P Kraft; AM Dunning; G Chenevix-Trench; P Hall; DF Easton

doi:10.1038/ng.3242

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou, J Beesley, S Lindstrom, S Canisius, J Dennis, MJ Lush, MJ Maranian, MK Bolla, Q (Qing) Wang, M Shah, BJ Perkins, K Czene, M Eriksson, H Darabi, JS Brand, SE Bojesen, BG Nordestgaard, H Flyger, SF Nielsen, N RahmanC Turnbull, O Fletcher, J Peto, L Gibson, I dos-Santos-Silva, J Chang-Claude, D Flesch-Janys, A Rudolph, U Eilber, S Behrens, H Nevanlinna, TA Muranen, K Aittomaki, C Blomqvist, Salima Khan, K Aaltonen, H Ahsan, MG Kibriya, AS Whittemore, EM John, KE Malone, MD Gammon, RM Santella, G Ursin, E Makalic, DF Schmidt, G Casey, DJ Hunter, SM Gapstur, MM Gaudet, WR Diver, CA Haiman, F Schumacher, BE Henderson, L Le Marchand, CD Berg, SJ Chanock, J Figueroa, RN Hoover, D Lambrechts, P Neven, H Wildiers, E van Limbergen, MK (Marjanka) Schmidt, A Broeks, S Verhoef, S Cornelissen, FJ Couch, JE Olson, E Hallberg, C Vachon, Q Waisfisz, H Meijers-Heijboer, MA (Muriel) Adank, RB van der Luijt, JM Li, JJ Liu, K Humphreys, D Kang, JY Choi, SK Park, KY Yoo, K Matsuo, H Ito, H Iwata, K Tajima, P Guenel, T Truong, C Mulot, M Sanchez, B Burwinkel, F Marme, H Surowy, C Sohn, AH Wu, CC Tseng, D van den Berg, DO Stram, A Gonzalez-Neira, J Benitez, MP Zamora, JIA Perez, XO Shu, W Lu, YT Gao, H Cai, A Cox, SS Cross, MWR Reed, IL Andrulis, JA Knight, G Glendon, AM Mulligan, EJ Sawyer, I Tomlinson, MJ Kerin, N Miller, A Lindblom, S Margolin, SH Teo, CH Yip, NAM Taib, GH Tan, Maartje Hooning, Antoinette Hollestelle, John Martens, Margriet Collee, W Blot, LB Signorello, QY Cai, JL Hopper, MC Southey, H Tsimiklis, C Apicella, CY Shen, CN Hsiung, PE Wu, MF Hou, VN Kristensen, S Nord, GIG Alnaes, GG Giles, RL Milne, C McLean, F Canzian, D Trichopoulos, P Peeters, E Lund, M Sund, KT Khaw, MJ Gunter, D Palli, LM Mortensen, L Dossus, JM Huerta, A Meindl, RK Schmutzler, C Sutter, R Yang, K Muir, A Lophatananon, S Stewart-Brown, P Siriwanarangsan, M Hartman, H Miao, KS Chia, CW Chan, PA Fasching, A Hein, MW Beckmann, L Haeberle, H Brenner, AK Dieffenbach, V Arndt, C Stegmaier, A Ashworth, N Orr, MJ Schoemaker, AJ Swerdlow, L Brinton, M Garcia-Closas, W Zheng, SL Halverson, M Shrubsole, J Long, MS Goldberg, F Labreche, M Dumont, R Winqvist, K Pylkas, A Jukkola-Vuorinen, M Grip, H Brauch, U Hamann, T Bruning, P Radice, P Peterlongo, S Manoukian, L Bernard, NV Bogdanova, T Dork, A Mannermaa, V Kataja, VM Kosma, JM Hartikainen, P Devilee, RAEM Tollenaar, Caroline Seynaeve, CJ van Asperen, A Jakubowska, J Lubinski, K Jaworska, T Huzarski, S Sangrajrang, V Gaborieau, P Brennan, J Mckay, S Slager, AE Toland, CB Ambrosone, D Yannoukakos, M Kabisch, D Torres, SL Neuhausen, H Anton-Culver, C Luccarini, C Baynes, S (Shahana) Ahmed, CS Healey, DC Tessier, D Vincent, F Bacot, G Pita, MR Alonso, N Alvarez, D Herrero, J Simard, PPDP Pharoah, P Kraft, AM Dunning, G Chenevix-Trench, P Hall, DF Easton

Research output: Contribution to journal › Article › Academic › peer-review

401 Citations (Scopus)

Abstract

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

Original language	Undefined/Unknown
Pages (from-to)	373-U127
Journal	Nature Genetics
Volume	47
Issue number	4
DOIs	https://doi.org/10.1038/ng.3242
Publication status	Published - 2015

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10.1038/ng.3242

Cite this

Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, MJ., Maranian, MJ., Bolla, MK., Wang, Q., Shah, M., Perkins, BJ., Czene, K., Eriksson, M., Darabi, H., Brand, JS., Bojesen, SE., Nordestgaard, BG., Flyger, H., Nielsen, SF., ... Easton, DF. (2015). Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nature Genetics, 47(4), 373-U127. https://doi.org/10.1038/ng.3242

@article{ae8f004336f14c4cb47e6bdbd5f0fa8c,

title = "Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer",

abstract = "Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.",

author = "K Michailidou and J Beesley and S Lindstrom and S Canisius and J Dennis and MJ Lush and MJ Maranian and MK Bolla and Wang, {Q (Qing)} and M Shah and BJ Perkins and K Czene and M Eriksson and H Darabi and JS Brand and SE Bojesen and BG Nordestgaard and H Flyger and SF Nielsen and N Rahman and C Turnbull and O Fletcher and J Peto and L Gibson and I dos-Santos-Silva and J Chang-Claude and D Flesch-Janys and A Rudolph and U Eilber and S Behrens and H Nevanlinna and TA Muranen and K Aittomaki and C Blomqvist and Salima Khan and K Aaltonen and H Ahsan and MG Kibriya and AS Whittemore and EM John and KE Malone and MD Gammon and RM Santella and G Ursin and E Makalic and DF Schmidt and G Casey and DJ Hunter and SM Gapstur and MM Gaudet and WR Diver and CA Haiman and F Schumacher and BE Henderson and {Le Marchand}, L and CD Berg and SJ Chanock and J Figueroa and RN Hoover and D Lambrechts and P Neven and H Wildiers and {van Limbergen}, E and Schmidt, {MK (Marjanka)} and A Broeks and S Verhoef and S Cornelissen and FJ Couch and JE Olson and E Hallberg and C Vachon and Q Waisfisz and H Meijers-Heijboer and Adank, {MA (Muriel)} and {van der Luijt}, RB and JM Li and JJ Liu and K Humphreys and D Kang and JY Choi and SK Park and KY Yoo and K Matsuo and H Ito and H Iwata and K Tajima and P Guenel and T Truong and C Mulot and M Sanchez and B Burwinkel and F Marme and H Surowy and C Sohn and AH Wu and CC Tseng and {van den Berg}, D and DO Stram and A Gonzalez-Neira and J Benitez and MP Zamora and JIA Perez and XO Shu and W Lu and YT Gao and H Cai and A Cox and SS Cross and MWR Reed and IL Andrulis and JA Knight and G Glendon and AM Mulligan and EJ Sawyer and I Tomlinson and MJ Kerin and N Miller and A Lindblom and S Margolin and SH Teo and CH Yip and NAM Taib and GH Tan and Maartje Hooning and Antoinette Hollestelle and John Martens and Margriet Collee and W Blot and LB Signorello and QY Cai and JL Hopper and MC Southey and H Tsimiklis and C Apicella and CY Shen and CN Hsiung and PE Wu and MF Hou and VN Kristensen and S Nord and GIG Alnaes and GG Giles and RL Milne and C McLean and F Canzian and D Trichopoulos and P Peeters and E Lund and M Sund and KT Khaw and MJ Gunter and D Palli and LM Mortensen and L Dossus and JM Huerta and A Meindl and RK Schmutzler and C Sutter and R Yang and K Muir and A Lophatananon and S Stewart-Brown and P Siriwanarangsan and M Hartman and H Miao and KS Chia and CW Chan and PA Fasching and A Hein and MW Beckmann and L Haeberle and H Brenner and AK Dieffenbach and V Arndt and C Stegmaier and A Ashworth and N Orr and MJ Schoemaker and AJ Swerdlow and L Brinton and M Garcia-Closas and W Zheng and SL Halverson and M Shrubsole and J Long and MS Goldberg and F Labreche and M Dumont and R Winqvist and K Pylkas and A Jukkola-Vuorinen and M Grip and H Brauch and U Hamann and T Bruning and P Radice and P Peterlongo and S Manoukian and L Bernard and NV Bogdanova and T Dork and A Mannermaa and V Kataja and VM Kosma and JM Hartikainen and P Devilee and RAEM Tollenaar and Caroline Seynaeve and {van Asperen}, CJ and A Jakubowska and J Lubinski and K Jaworska and T Huzarski and S Sangrajrang and V Gaborieau and P Brennan and J Mckay and S Slager and AE Toland and CB Ambrosone and D Yannoukakos and M Kabisch and D Torres and SL Neuhausen and H Anton-Culver and C Luccarini and C Baynes and Ahmed, {S (Shahana)} and CS Healey and DC Tessier and D Vincent and F Bacot and G Pita and MR Alonso and N Alvarez and D Herrero and J Simard and PPDP Pharoah and P Kraft and AM Dunning and G Chenevix-Trench and P Hall and DF Easton",

year = "2015",

doi = "10.1038/ng.3242",

language = "Undefined/Unknown",

volume = "47",

pages = "373--U127",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "4",

}

Michailidou, K, Beesley, J, Lindstrom, S, Canisius, S, Dennis, J, Lush, MJ, Maranian, MJ, Bolla, MK, Wang, Q, Shah, M, Perkins, BJ, Czene, K, Eriksson, M, Darabi, H, Brand, JS, Bojesen, SE, Nordestgaard, BG, Flyger, H, Nielsen, SF, Rahman, N, Turnbull, C, Fletcher, O, Peto, J, Gibson, L, dos-Santos-Silva, I, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Eilber, U, Behrens, S, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Khan, S, Aaltonen, K, Ahsan, H, Kibriya, MG, Whittemore, AS, John, EM, Malone, KE, Gammon, MD, Santella, RM, Ursin, G, Makalic, E, Schmidt, DF, Casey, G, Hunter, DJ, Gapstur, SM, Gaudet, MM, Diver, WR, Haiman, CA, Schumacher, F, Henderson, BE, Le Marchand, L, Berg, CD, Chanock, SJ, Figueroa, J, Hoover, RN, Lambrechts, D, Neven, P, Wildiers, H, van Limbergen, E, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Li, JM, Liu, JJ, Humphreys, K, Kang, D, Choi, JY, Park, SK, Yoo, KY, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Guenel, P, Truong, T, Mulot, C, Sanchez, M, Burwinkel, B, Marme, F, Surowy, H, Sohn, C, Wu, AH, Tseng, CC, van den Berg, D, Stram, DO, Gonzalez-Neira, A, Benitez, J, Zamora, MP, Perez, JIA, Shu, XO, Lu, W, Gao, YT, Cai, H, Cox, A, Cross, SS, Reed, MWR, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Lindblom, A, Margolin, S, Teo, SH, Yip, CH, Taib, NAM, Tan, GH, Hooning, M , Hollestelle, A , Martens, J , Collee, M, Blot, W, Signorello, LB, Cai, QY, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Shen, CY, Hsiung, CN, Wu, PE, Hou, MF, Kristensen, VN, Nord, S, Alnaes, GIG, Giles, GG, Milne, RL, McLean, C, Canzian, F, Trichopoulos, D, Peeters, P, Lund, E, Sund, M, Khaw, KT, Gunter, MJ, Palli, D, Mortensen, LM, Dossus, L, Huerta, JM, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Hartman, M, Miao, H, Chia, KS, Chan, CW, Fasching, PA, Hein, A, Beckmann, MW, Haeberle, L, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Ashworth, A, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Brinton, L, Garcia-Closas, M, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Bruning, T, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Bogdanova, NV, Dork, T, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Huzarski, T, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Kabisch, M, Torres, D, Neuhausen, SL, Anton-Culver, H, Luccarini, C, Baynes, C, Ahmed, S, Healey, CS, Tessier, DC, Vincent, D, Bacot, F, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Simard, J, Pharoah, PPDP, Kraft, P, Dunning, AM, Chenevix-Trench, G, Hall, P & Easton, DF 2015, 'Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer', Nature Genetics, vol. 47, no. 4, pp. 373-U127. https://doi.org/10.1038/ng.3242

TY - JOUR

T1 - Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

AU - Michailidou, K

AU - Beesley, J

AU - Lindstrom, S

AU - Canisius, S

AU - Dennis, J

AU - Lush, MJ

AU - Maranian, MJ

AU - Bolla, MK

AU - Wang, Q (Qing)

AU - Shah, M

AU - Perkins, BJ

AU - Czene, K

AU - Eriksson, M

AU - Darabi, H

AU - Brand, JS

AU - Bojesen, SE

AU - Nordestgaard, BG

AU - Flyger, H

AU - Nielsen, SF

AU - Rahman, N

AU - Turnbull, C

AU - Fletcher, O

AU - Peto, J

AU - Gibson, L

AU - dos-Santos-Silva, I

AU - Chang-Claude, J

AU - Flesch-Janys, D

AU - Rudolph, A

AU - Eilber, U

AU - Behrens, S

AU - Nevanlinna, H

AU - Muranen, TA

AU - Aittomaki, K

AU - Blomqvist, C

AU - Khan, Salima

AU - Aaltonen, K

AU - Ahsan, H

AU - Kibriya, MG

AU - Whittemore, AS

AU - John, EM

AU - Malone, KE

AU - Gammon, MD

AU - Santella, RM

AU - Ursin, G

AU - Makalic, E

AU - Schmidt, DF

AU - Casey, G

AU - Hunter, DJ

AU - Gapstur, SM

AU - Gaudet, MM

AU - Diver, WR

AU - Haiman, CA

AU - Schumacher, F

AU - Henderson, BE

AU - Le Marchand, L

AU - Berg, CD

AU - Chanock, SJ

AU - Figueroa, J

AU - Hoover, RN

AU - Lambrechts, D

AU - Neven, P

AU - Wildiers, H

AU - van Limbergen, E

AU - Schmidt, MK (Marjanka)

AU - Broeks, A

AU - Verhoef, S

AU - Cornelissen, S

AU - Couch, FJ

AU - Olson, JE

AU - Hallberg, E

AU - Vachon, C

AU - Waisfisz, Q

AU - Meijers-Heijboer, H

AU - Adank, MA (Muriel)

AU - van der Luijt, RB

AU - Li, JM

AU - Liu, JJ

AU - Humphreys, K

AU - Kang, D

AU - Choi, JY

AU - Park, SK

AU - Yoo, KY

AU - Matsuo, K

AU - Ito, H

AU - Iwata, H

AU - Tajima, K

AU - Guenel, P

AU - Truong, T

AU - Mulot, C

AU - Sanchez, M

AU - Burwinkel, B

AU - Marme, F

AU - Surowy, H

AU - Sohn, C

AU - Wu, AH

AU - Tseng, CC

AU - van den Berg, D

AU - Stram, DO

AU - Gonzalez-Neira, A

AU - Benitez, J

AU - Zamora, MP

AU - Perez, JIA

AU - Shu, XO

AU - Lu, W

AU - Gao, YT

AU - Cai, H

AU - Cox, A

AU - Cross, SS

AU - Reed, MWR

AU - Andrulis, IL

AU - Knight, JA

AU - Glendon, G

AU - Mulligan, AM

AU - Sawyer, EJ

AU - Tomlinson, I

AU - Kerin, MJ

AU - Miller, N

AU - Lindblom, A

AU - Margolin, S

AU - Teo, SH

AU - Yip, CH

AU - Taib, NAM

AU - Tan, GH

AU - Hooning, Maartje

AU - Hollestelle, Antoinette

AU - Martens, John

AU - Collee, Margriet

AU - Blot, W

AU - Signorello, LB

AU - Cai, QY

AU - Hopper, JL

AU - Southey, MC

AU - Tsimiklis, H

AU - Apicella, C

AU - Shen, CY

AU - Hsiung, CN

AU - Wu, PE

AU - Hou, MF

AU - Kristensen, VN

AU - Nord, S

AU - Alnaes, GIG

AU - Giles, GG

AU - Milne, RL

AU - McLean, C

AU - Canzian, F

AU - Trichopoulos, D

AU - Peeters, P

AU - Lund, E

AU - Sund, M

AU - Khaw, KT

AU - Gunter, MJ

AU - Palli, D

AU - Mortensen, LM

AU - Dossus, L

AU - Huerta, JM

AU - Meindl, A

AU - Schmutzler, RK

AU - Sutter, C

AU - Yang, R

AU - Muir, K

AU - Lophatananon, A

AU - Stewart-Brown, S

AU - Siriwanarangsan, P

AU - Hartman, M

AU - Miao, H

AU - Chia, KS

AU - Chan, CW

AU - Fasching, PA

AU - Hein, A

AU - Beckmann, MW

AU - Haeberle, L

AU - Brenner, H

AU - Dieffenbach, AK

AU - Arndt, V

AU - Stegmaier, C

AU - Ashworth, A

AU - Orr, N

AU - Schoemaker, MJ

AU - Swerdlow, AJ

AU - Brinton, L

AU - Garcia-Closas, M

AU - Zheng, W

AU - Halverson, SL

AU - Shrubsole, M

AU - Long, J

AU - Goldberg, MS

AU - Labreche, F

AU - Dumont, M

AU - Winqvist, R

AU - Pylkas, K

AU - Jukkola-Vuorinen, A

AU - Grip, M

AU - Brauch, H

AU - Hamann, U

AU - Bruning, T

AU - Radice, P

AU - Peterlongo, P

AU - Manoukian, S

AU - Bernard, L

AU - Bogdanova, NV

AU - Dork, T

AU - Mannermaa, A

AU - Kataja, V

AU - Kosma, VM

AU - Hartikainen, JM

AU - Devilee, P

AU - Tollenaar, RAEM

AU - Seynaeve, Caroline

AU - van Asperen, CJ

AU - Jakubowska, A

AU - Lubinski, J

AU - Jaworska, K

AU - Huzarski, T

AU - Sangrajrang, S

AU - Gaborieau, V

AU - Brennan, P

AU - Mckay, J

AU - Slager, S

AU - Toland, AE

AU - Ambrosone, CB

AU - Yannoukakos, D

AU - Kabisch, M

AU - Torres, D

AU - Neuhausen, SL

AU - Anton-Culver, H

AU - Luccarini, C

AU - Baynes, C

AU - Ahmed, S (Shahana)

AU - Healey, CS

AU - Tessier, DC

AU - Vincent, D

AU - Bacot, F

AU - Pita, G

AU - Alonso, MR

AU - Alvarez, N

AU - Herrero, D

AU - Simard, J

AU - Pharoah, PPDP

AU - Kraft, P

AU - Dunning, AM

AU - Chenevix-Trench, G

AU - Hall, P

AU - Easton, DF

PY - 2015

Y1 - 2015

N2 - Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

AB - Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

U2 - 10.1038/ng.3242

DO - 10.1038/ng.3242

M3 - Article

SN - 1061-4036

VL - 47

SP - 373-U127

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -