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

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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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Chicago
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.
APA
Couch, F., Kuchenbaecker, K., Michailidou, K., Mendoza-Fandino, G., Nord, S., Lilyquist, J., Olswold, C., et al. (2016). Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NATURE COMMUNICATIONS, 7.
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.
MLA
Couch, FJ, KB Kuchenbaecker, K Michailidou, et al. “Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer.” NATURE COMMUNICATIONS 7 (2016): n. pag. Print.
@article{7900406,
  abstract     = {Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P{\textlangle}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{\textlangle}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},
  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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