
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- Author
- FJ Couch, KB Kuchenbaecker, K Michailidou, GA Mendoza-Fandino, S Nord, J Lilyquist, C Olswold, E Hallberg, S Agata, H Ahsan, K Aittomaki, C Ambrosone, IL Andrulis, H Anton-Culver, V Arndt, BK Arun, B Arver, M Barile, RB Barkardottir, D Barrowdale, L Beckmann, MW Beckmann, J Benitez, SV Blank, C Blomqvist, NV Bogdanova, SE Bojesen, MK Bolla, B Bonanni, H Brauch, H Brenner, B Burwinkel, SS Buys, T Caldes, MA Caligo, F Canzian, J Carpenter, J Chang-Claude, SJ Chanock, WK Chung, Kathleen Claes (UGent) , A Cox, SS Cross, JM Cunningham, K Czene, MB Daly, F Damiola, H Darabi, M de la Hoya, P Devilee, O Diez, YC Ding, R Dolcetti, SM Domchek, CM Dorfling, I dos-Santos-Silva, M Dumont, AM Dunning, DM Eccles, H Ehrencrona, AB Ekici, H Eliassen, S Ellis, PA Fasching, J Figueroa, D Flesch-Janys, A Forsti, F Fostira, WD Foulkes, T Friebel, E Friedman, D Frost, M Gabrielson, MD Gammon, PA Ganz, SM Gapstur, J Garber, MM Gaudet, SA Gayther, AM Gerdes, M Ghoussaini, GG Giles, G Glendon, AK Godwin, MS Goldberg, DE Goldgar, A Gonzalez-Neira, MH Greene, J Gronwald, P Guenel, M Gunter, L Haeberle, CA Haiman, U Hamann, TVO Hansen, S Hart, S Healey, T Heikkinen, BE Henderson, J Herzog, FBL Hogervorst, A Hollestelle, MJ Hooning, RN Hoover, JL Hopper, K Humphreys, DJ Hunter, T Huzarski, EN Imyanitov, C Isaacs, A Jakubowska, P James, R Janavicius, UB Jensen, EM John, M Jones, M Kabisch, S Kar, BY Karlan, S Khan, KT Khaw, MG Kibriya, JA Knight, YD Ko, I Konstantopoulou, VM Kosma, V Kristensen, A Kwong, Y Laitman, D Lambrechts, C Lazaro, E Lee, L Le Marchand, J Lester, A Lindblom, N Lindor, S Lindstrom, J Liu, J Long, J Lubinski, PL Mai, E Makalic, KE Malone, A Mannermaa, S Manoukian, S Margolin, F Marme, JWM Martens, L McGuffog, A Meindl, A Miller, RL Milne, P Miron, M Montagna, S Mazoyer, AM Mulligan, TA Muranen, KL Nathanson, SL Neuhausen, H Nevanlinna, BG Nordestgaard, RL Nussbaum, K Offit, E Olah, OI Olopade, JE Olson, A Osorio, SK Park, PH Peeters, B Peissel, P Peterlongo, J Peto, CM Phelan, R Pilarski, Bruce Poppe (UGent) , K Pylkas, P Radice, N Rahman, J Rantala, C Rappaport, G Rennert, A Richardson, M Robson, I Romieu, A Rudolph, EJ Rutgers, MJ Sanchez, RM Santella, EJ Sawyer, DF Schmidt, MK Schmidt, RK Schmutzler, F Schumacher, R Scott, L Senter, P Sharma, J Simard, CF Singer, OM Sinilnikova, P Soucy, M Southey, D Steinemann, M Stenmark-Askmalm, D Stoppa-Lyonnet, A Swerdlow, CI Szabo, R Tamimi, W Tapper, MR Teixeira, SH Teo, MB Terry, M Thomassen, D Thompson, L Tihomirova, AE Toland, RAEM Tollenaar, I Tomlinson, T Truong, H Tsimiklis, A Teule, R Tumino, N Tung, C Turnbull, G Ursin, CHM van Deurzen, EJ van Rensburg, R Varon-Mateeva, ZM Wang, S Wang-Gohrke, E Weiderpass, JN Weitzel, A Whittemore, H Wildiers, R Winqvist, XHR Yang, D Yannoukakos, S Yao, MP Zamora, W Zheng, P Hall, P Kraft, C Vachon, S Slager, G Chenevix-Trench, PDP Pharoah, AAN Monteiro, M Garcia-Closas, DF Easton and AC Antoniou
- Organization
- Abstract
- Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
- Keywords
- COMMON VARIANTS, CONFER SUSCEPTIBILITY, PANCREATIC-CANCER, BRCA2 MUTATION CARRIERS, GENOME-WIDE ASSOCIATION, GENE-EXPRESSION, TELOMERE LENGTH, RISK, METAANALYSIS, IDENTIFY
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Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-7900406
- MLA
- Couch, FJ, et al. “Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer.” NATURE COMMUNICATIONS, vol. 7, 2016, doi:10.1038/ncomms11375.
- APA
- Couch, F., Kuchenbaecker, K., Michailidou, K., Mendoza-Fandino, G., Nord, S., Lilyquist, J., … Antoniou, A. (2016). Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NATURE COMMUNICATIONS, 7. https://doi.org/10.1038/ncomms11375
- Chicago author-date
- Couch, FJ, KB Kuchenbaecker, K Michailidou, GA Mendoza-Fandino, S Nord, J Lilyquist, C Olswold, et al. 2016. “Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer.” NATURE COMMUNICATIONS 7. https://doi.org/10.1038/ncomms11375.
- Chicago author-date (all authors)
- Couch, FJ, KB Kuchenbaecker, K Michailidou, GA Mendoza-Fandino, S Nord, J Lilyquist, C Olswold, E Hallberg, S Agata, H Ahsan, K Aittomaki, C Ambrosone, IL Andrulis, H Anton-Culver, V Arndt, BK Arun, B Arver, M Barile, RB Barkardottir, D Barrowdale, L Beckmann, MW Beckmann, J Benitez, SV Blank, C Blomqvist, NV Bogdanova, SE Bojesen, MK Bolla, B Bonanni, H Brauch, H Brenner, B Burwinkel, SS Buys, T Caldes, MA Caligo, F Canzian, J Carpenter, J Chang-Claude, SJ Chanock, WK Chung, Kathleen Claes, A Cox, SS Cross, JM Cunningham, K Czene, MB Daly, F Damiola, H Darabi, M de la Hoya, P Devilee, O Diez, YC Ding, R Dolcetti, SM Domchek, CM Dorfling, I dos-Santos-Silva, M Dumont, AM Dunning, DM Eccles, H Ehrencrona, AB Ekici, H Eliassen, S Ellis, PA Fasching, J Figueroa, D Flesch-Janys, A Forsti, F Fostira, WD Foulkes, T Friebel, E Friedman, D Frost, M Gabrielson, MD Gammon, PA Ganz, SM Gapstur, J Garber, MM Gaudet, SA Gayther, AM Gerdes, M Ghoussaini, GG Giles, G Glendon, AK Godwin, MS Goldberg, DE Goldgar, A Gonzalez-Neira, MH Greene, J Gronwald, P Guenel, M Gunter, L Haeberle, CA Haiman, U Hamann, TVO Hansen, S Hart, S Healey, T Heikkinen, BE Henderson, J Herzog, FBL Hogervorst, A Hollestelle, MJ Hooning, RN Hoover, JL Hopper, K Humphreys, DJ Hunter, T Huzarski, EN Imyanitov, C Isaacs, A Jakubowska, P James, R Janavicius, UB Jensen, EM John, M Jones, M Kabisch, S Kar, BY Karlan, S Khan, KT Khaw, MG Kibriya, JA Knight, YD Ko, I Konstantopoulou, VM Kosma, V Kristensen, A Kwong, Y Laitman, D Lambrechts, C Lazaro, E Lee, L Le Marchand, J Lester, A Lindblom, N Lindor, S Lindstrom, J Liu, J Long, J Lubinski, PL Mai, E Makalic, KE Malone, A Mannermaa, S Manoukian, S Margolin, F Marme, JWM Martens, L McGuffog, A Meindl, A Miller, RL Milne, P Miron, M Montagna, S Mazoyer, AM Mulligan, TA Muranen, KL Nathanson, SL Neuhausen, H Nevanlinna, BG Nordestgaard, RL Nussbaum, K Offit, E Olah, OI Olopade, JE Olson, A Osorio, SK Park, PH Peeters, B Peissel, P Peterlongo, J Peto, CM Phelan, R Pilarski, Bruce Poppe, K Pylkas, P Radice, N Rahman, J Rantala, C Rappaport, G Rennert, A Richardson, M Robson, I Romieu, A Rudolph, EJ Rutgers, MJ Sanchez, RM Santella, EJ Sawyer, DF Schmidt, MK Schmidt, RK Schmutzler, F Schumacher, R Scott, L Senter, P Sharma, J Simard, CF Singer, OM Sinilnikova, P Soucy, M Southey, D Steinemann, M Stenmark-Askmalm, D Stoppa-Lyonnet, A Swerdlow, CI Szabo, R Tamimi, W Tapper, MR Teixeira, SH Teo, MB Terry, M Thomassen, D Thompson, L Tihomirova, AE Toland, RAEM Tollenaar, I Tomlinson, T Truong, H Tsimiklis, A Teule, R Tumino, N Tung, C Turnbull, G Ursin, CHM van Deurzen, EJ van Rensburg, R Varon-Mateeva, ZM Wang, S Wang-Gohrke, E Weiderpass, JN Weitzel, A Whittemore, H Wildiers, R Winqvist, XHR Yang, D Yannoukakos, S Yao, MP Zamora, W Zheng, P Hall, P Kraft, C Vachon, S Slager, G Chenevix-Trench, PDP Pharoah, AAN Monteiro, M Garcia-Closas, DF Easton, and AC Antoniou. 2016. “Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer.” NATURE COMMUNICATIONS 7. doi:10.1038/ncomms11375.
- Vancouver
- 1.Couch F, Kuchenbaecker K, Michailidou K, Mendoza-Fandino G, Nord S, Lilyquist J, et al. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NATURE COMMUNICATIONS. 2016;7.
- IEEE
- [1]F. Couch et al., “Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer,” NATURE COMMUNICATIONS, vol. 7, 2016.
@article{7900406, abstract = {{Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.}}, articleno = {{11375}}, author = {{Couch, FJ and Kuchenbaecker, KB and Michailidou, K and Mendoza-Fandino, GA and Nord, S and Lilyquist, J and Olswold, C and Hallberg, E and Agata, S and Ahsan, H and Aittomaki, K and Ambrosone, C and Andrulis, IL and Anton-Culver, H and Arndt, V and Arun, BK and Arver, B and Barile, M and Barkardottir, RB and Barrowdale, D and Beckmann, L and Beckmann, MW and Benitez, J and Blank, SV and Blomqvist, C and Bogdanova, NV and Bojesen, SE and Bolla, MK and Bonanni, B and Brauch, H and Brenner, H and Burwinkel, B and Buys, SS and Caldes, T and Caligo, MA and Canzian, F and Carpenter, J and Chang-Claude, J and Chanock, SJ and Chung, WK and Claes, Kathleen and Cox, A and Cross, SS and Cunningham, JM and Czene, K and Daly, MB and Damiola, F and Darabi, H and de la Hoya, M and Devilee, P and Diez, O and Ding, YC and Dolcetti, R and Domchek, SM and Dorfling, CM and dos-Santos-Silva, I and Dumont, M and Dunning, AM and Eccles, DM and Ehrencrona, H and Ekici, AB and Eliassen, H and Ellis, S and Fasching, PA and Figueroa, J and Flesch-Janys, D and Forsti, A and Fostira, F and Foulkes, WD and Friebel, T and Friedman, E and Frost, D and Gabrielson, M and Gammon, MD and Ganz, PA and Gapstur, SM and Garber, J and Gaudet, MM and Gayther, SA and Gerdes, AM and Ghoussaini, M and Giles, GG and Glendon, G and Godwin, AK and Goldberg, MS and Goldgar, DE and Gonzalez-Neira, A and Greene, MH and Gronwald, J and Guenel, P and Gunter, M and Haeberle, L and Haiman, CA and Hamann, U and Hansen, TVO and Hart, S and Healey, S and Heikkinen, T and Henderson, BE and Herzog, J and Hogervorst, FBL and Hollestelle, A and Hooning, MJ and Hoover, RN and Hopper, JL and Humphreys, K and Hunter, DJ and Huzarski, T and Imyanitov, EN and Isaacs, C and Jakubowska, A and James, P and Janavicius, R and Jensen, UB and John, EM and Jones, M and Kabisch, M and Kar, S and Karlan, BY and Khan, S and Khaw, KT and Kibriya, MG and Knight, JA and Ko, YD and Konstantopoulou, I and Kosma, VM and Kristensen, V and Kwong, A and Laitman, Y and Lambrechts, D and Lazaro, C and Lee, E and Le Marchand, L and Lester, J and Lindblom, A and Lindor, N and Lindstrom, S and Liu, J and Long, J and Lubinski, J and Mai, PL and Makalic, E and Malone, KE and Mannermaa, A and Manoukian, S and Margolin, S and Marme, F and Martens, JWM and McGuffog, L and Meindl, A and Miller, A and Milne, RL and Miron, P and Montagna, M and Mazoyer, S and Mulligan, AM and Muranen, TA and Nathanson, KL and Neuhausen, SL and Nevanlinna, H and Nordestgaard, BG and Nussbaum, RL and Offit, K and Olah, E and Olopade, OI and Olson, JE and Osorio, A and Park, SK and Peeters, PH and Peissel, B and Peterlongo, P and Peto, J and Phelan, CM and Pilarski, R and Poppe, Bruce and Pylkas, K and Radice, P and Rahman, N and Rantala, J and Rappaport, C and Rennert, G and Richardson, A and Robson, M and Romieu, I and Rudolph, A and Rutgers, EJ and Sanchez, MJ and Santella, RM and Sawyer, EJ and Schmidt, DF and Schmidt, MK and Schmutzler, RK and Schumacher, F and Scott, R and Senter, L and Sharma, P and Simard, J and Singer, CF and Sinilnikova, OM and Soucy, P and Southey, M and Steinemann, D and Stenmark-Askmalm, M and Stoppa-Lyonnet, D and Swerdlow, A and Szabo, CI and Tamimi, R and Tapper, W and Teixeira, MR and Teo, SH and Terry, MB and Thomassen, M and Thompson, D and Tihomirova, L and Toland, AE and Tollenaar, RAEM and Tomlinson, I and Truong, T and Tsimiklis, H and Teule, A and Tumino, R and Tung, N and Turnbull, C and Ursin, G and van Deurzen, CHM and van Rensburg, EJ and Varon-Mateeva, R and Wang, ZM and Wang-Gohrke, S and Weiderpass, E and Weitzel, JN and Whittemore, A and Wildiers, H and Winqvist, R and Yang, XHR and Yannoukakos, D and Yao, S and Zamora, MP and Zheng, W and Hall, P and Kraft, P and Vachon, C and Slager, S and Chenevix-Trench, G and Pharoah, PDP and Monteiro, AAN and Garcia-Closas, M and Easton, DF and Antoniou, AC}}, issn = {{2041-1723}}, journal = {{NATURE COMMUNICATIONS}}, keywords = {{COMMON VARIANTS,CONFER SUSCEPTIBILITY,PANCREATIC-CANCER,BRCA2 MUTATION CARRIERS,GENOME-WIDE ASSOCIATION,GENE-EXPRESSION,TELOMERE LENGTH,RISK,METAANALYSIS,IDENTIFY}}, language = {{eng}}, pages = {{13}}, title = {{Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer}}, url = {{http://dx.doi.org/10.1038/ncomms11375}}, volume = {{7}}, year = {{2016}}, }
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