Advanced search
1 file | 1.03 MB Add to list

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author
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

Downloads

  • couch2015.pdf
    • full text
    • |
    • open access
    • |
    • PDF
    • |
    • 1.03 MB

Citation

Please use this url to cite or link to this publication:

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}},
}

Altmetric
View in Altmetric
Web of Science
Times cited: