Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

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MARC

Ferreira, MAQIMR Berghofer Medical Research Institute (author)

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Article/chapterEnglish2019

Publisher, publication year, extent ...

2019-04-15
Springer Science and Business Media LLC,2019

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:140718307
http://kipublications.ki.se/Default.aspx?queryparsed=id:140718307URI
https://doi.org/10.1038/s41467-018-08053-5DOI
https://lup.lub.lu.se/record/e3cc4683-efe4-47de-a091-291384242383URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.

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Gamazon, ER (author)
Al-Ejeh, F (author)
Aittomaki, K (author)
Andrulis, IL (author)
Anton-Culver, H (author)
Arason, A (author)
Arndt, V (author)
Aronson, KJ (author)
Arun, BK (author)
Asseryanis, E (author)
Azzollini, J (author)
Balmana, J (author)
Barnes, DR (author)
Barrowdale, D (author)
Beckmann, MW (author)
Behrens, S (author)
Benitez, J (author)
Bermisheva, M (author)
Bialkowska, K (author)
Blomqvist, C (author)
Bogdanova, N (author)
Bojesen, SE (author)
Bolla, MK (author)
Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,Skåne University Hospital(Swepub:lu)onk-abo (author)
Brauch, H (author)
Brenner, H (author)
Broeks, A (author)
Burwinkel, B (author)
Caldes, T (author)
Caligo, MA (author)
Campa, D (author)
Campbell, I (author)
Canzian, F (author)
Carter, J (author)
Carter, BD (author)
Castelao, JE (author)
Chang-Claude, J (author)
Chanock, SJ (author)
Christiansen, H (author)
Chung, WK (author)
Claes, KBM (author)
Clarke, CL (author)
Couch, FJ (author)
Cox, A (author)
Cross, SS (author)
Czene, KKarolinska Institutet (author)
Daly, MB (author)
de la Hoya, M (author)
Dennis, J (author)
Devilee, P (author)
Diez, O (author)
Dork, T (author)
Dunning, AM (author)
Dwek, M (author)
Eccles, DM (author)
Ejlertsen, B (author)
Ellberg, CarolinaLund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-elc (author)
Engel, C (author)
Eriksson, MKarolinska Institutet (author)
Fasching, PA (author)
Fletcher, O (author)
Flyger, H (author)
Friedman, E (author)
Frost, D (author)
Gabrielson, MKarolinska Institutet (author)
Gago-Dominguez, M (author)
Ganz, PA (author)
Gapstur, SM (author)
Garber, J (author)
Garcia-Closas, M (author)
Garcia-Saenz, JA (author)
Gaudet, MM (author)
Giles, GG (author)
Glendon, G (author)
Godwin, AK (author)
Goldberg, MS (author)
Goldgar, DE (author)
Gonzalez-Neira, A (author)
Greene, MH (author)
Gronwald, J (author)
Guenel, P (author)
Haiman, CA (author)
Hall, PKarolinska Institutet (author)
Hamann, U (author)
He, WKarolinska Institutet (author)
Heyworth, J (author)
Hogervorst, FBL (author)
Hollestelle, A (author)
Hoover, RN (author)
Hopper, JL (author)
Hulick, PJ (author)
Humphreys, KKarolinska Institutet (author)
Imyanitov, EN (author)
Isaacs, C (author)
Jakimovska, M (author)
Jakubowska, A (author)
James, PA (author)
Janavicius, R (author)
Jankowitz, RC (author)
John, EM (author)
Johnson, N (author)
Joseph, V (author)
Karlan, BY (author)
Khusnutdinova, E (author)
Kiiski, J (author)
Ko, YD (author)
Jones, ME (author)
Konstantopoulou, I (author)
Kristensen, VN (author)
Laitman, Y (author)
Lambrechts, D (author)
Lazaro, C (author)
Leslie, G (author)
Lester, J (author)
Lesueur, F (author)
Lindstrom, S (author)
Long, JR (author)
Loud, JT (author)
Lubinski, J (author)
Makalic, E (author)
Mannermaa, A (author)
Manoochehri, M (author)
Margolin, SKarolinska Institutet (author)
Maurer, T (author)
Mavroudis, D (author)
McGuffog, L (author)
Meindl, A (author)
Menon, U (author)
Michailidou, K (author)
Miller, A (author)
Montagna, M (author)
Moreno, F (author)
Moserle, L (author)
Mulligan, AM (author)
Nathanson, KL (author)
Neuhausen, SL (author)
Nevanlinna, H (author)
Nevelsteen, I (author)
Nielsen, FC (author)
Nikitina-Zake, L (author)
Nussbaum, RL (author)
Offit, K (author)
Olah, E (author)
Olopade, O (author)
Olsson, HåkanLund University,Lunds universitet,Medicinsk onkologi,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumörmikromiljö,Institutionen för kliniska vetenskaper, Lund,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Medical oncology,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Tumor microenvironment,Department of Clinical Sciences, Lund,Lund Melanoma Study Group,Lund University Research Groups,Skåne University Hospital(Swepub:lu)onk-hol (author)
Osorio, A (author)
Papp, J (author)
Park-Simon, TW (author)
Parsons, MT (author)
Pedersen, IS (author)
Peixoto, A (author)
Peterlongo, P (author)
Pharoah, PDP (author)
Plaseska-Karanfilska, D (author)
Poppe, B (author)
Presneau, N (author)
Radice, P (author)
Rantala, JKarolinska Institutet (author)
Rennert, G (author)
Risch, HA (author)
Saloustros, E (author)
Sanden, K (author)
Sawyer, EJ (author)
Schmidt, MK (author)
Schmutzler, RK (author)
Sharma, P (author)
Shu, XO (author)
Simard, J (author)
Singer, CF (author)
Soucy, P (author)
Southey, MC (author)
Spinelli, JJ (author)
Spurdle, AB (author)
Stone, J (author)
Swerdlow, AJ (author)
Tapper, WJ (author)
Taylor, JA (author)
Teixeira, MR (author)
Terry, MB (author)
Teule, A (author)
Thomassen, M (author)
Thone, K (author)
Thull, DL (author)
Tischkowitz, M (author)
Toland, AE (author)
Torres, D (author)
Truong, T (author)
Tung, N (author)
Vachon, CM (author)
van Asperen, CJ (author)
van den Ouweland, AMW (author)
van Rensburg, EJ (author)
Vega, A (author)
Viel, A (author)
Wang, Q (author)
Wappenschmidt, B (author)
Weitzel, JN (author)
Wendt, CKarolinska Institutet (author)
Winqvist, R (author)
Yang, XHR (author)
Yannoukakos, D (author)
Ziogas, A (author)
Kraft, P (author)
Antoniou, AC (author)
Zheng, W (author)
Easton, DF (author)
Milne, RL (author)
Beesley, J (author)
Chenevix-Trench, G (author)
Arnold, N (author)
Auber, B (author)
Bogdanova-Markov, N (author)
Borde, J (author)
Caliebe, A (author)
Ditsch, N (author)
Dworniczak, B (author)
Engert, S (author)
Faust, U (author)
Gehrig, A (author)
Hahnen, E (author)
Hauke, J (author)
Hentschel, J (author)
Herold, N (author)
Honisch, E (author)
Just, W (author)
Kast, K (author)
Larsen, M (author)
Lemke, J (author)
Nguyen, HP (author)
Niederacher, D (author)
Ott, CE (author)
Platzer, K (author)
Pohl-Rescigno, E (author)
Ramser, J (author)
Rhiem, K (author)
Steinemann, D (author)
Sutter, C (author)
Varon-Mateeva, R (author)
Wang-Gohrke, S (author)
Weber, BHF (author)
Prieur, F (author)
Pujol, P (author)
Sagne, C (author)
Sevenet, N (author)
Sobol, H (author)
Sokolowska, J (author)
Stoppa-Lyonnet, D (author)
Venat-Bouvet, L (author)
Adlard, J (author)
Ahmed, M (author)
Barwell, J (author)
Brady, A (author)
Brewer, C (author)
Cook, J (author)
Davidson, R (author)
Donaldson, A (author)
Eason, J (author)
Eeles, R (author)
Evans, DG (author)
Gregory, H (author)
Hanson, H (author)
Henderson, A (author)
Hodgson, S (author)
Izatt, L (author)
Kennedy, MJ (author)
Lalloo, F (author)
Miller, C (author)
Morrison, PJ (author)
Ong, KR (author)
Perkins, J (author)
Porteous, ME (author)
Rogers, MT (author)
Side, LE (author)
Snape, K (author)
Walker, L (author)
Harrington, PA (author)
Heemskerk-Gerritsen, BAM (author)
Rookus, MA (author)
Seynaeve, CM (author)
van der Baan, FH (author)
van der Hout, AH (author)
van der Kolk, LE (author)
van der Luijt, RB (author)
van Deurzen, CHM (author)
van Doorn, HC (author)
van Engelen, K (author)
van Hest, L (author)
van Os, TAM (author)
Verhoef, S (author)
Vogel, MJ (author)
Wijnen, JT (author)
Miron, A (author)
Kapuscinski, M (author)
Bane, A (author)
Ross, E (author)
Buys, SS (author)
Conner, TA (author)
Balleine, R (author)
Baxter, R (author)
Braye, S (author)
Carpenter, J (author)
Dahlstrom, J (author)
Forbes, J (author)
Lee, SC (author)
Marsh, D (author)
Morey, A (author)
Pathmanathan, N (author)
Simpson, P (author)
Spigelman, A (author)
Wilcken, N (author)
Yip, D (author)
QIMR Berghofer Medical Research InstituteBröstcancer-genetik (creator_code:org_t)

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By the author/editor: Ferreira, MA; Gamazon, ER; Al-Ejeh, F; Aittomaki, K; Andrulis, IL; Anton-Culver, H; show more...; Arason, A; Arndt, V; Aronson, KJ; Arun, BK; Asseryanis, E; Azzollini, J; Balmana, J; Barnes, DR; Barrowdale, D; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; Bialkowska, K; Blomqvist, C; Bogdanova, N; Bojesen, SE; Bolla, MK; Borg, Åke; Brauch, H; Brenner, H; Broeks, A; Burwinkel, B; Caldes, T; Caligo, MA; Campa, D; Campbell, I; Canzian, F; Carter, J; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Christiansen, H; Chung, WK; Claes, KBM; Clarke, CL; Couch, FJ; Cox, A; Cross, SS; Czene, K; Daly, MB; de la Hoya, M; Dennis, J; Devilee, P; Diez, O; Dork, T; Dunning, AM; Dwek, M; Eccles, DM; Ejlertsen, B; Ellberg, Carolin ...; Engel, C; Eriksson, M; Fasching, PA; Fletcher, O; Flyger, H; Friedman, E; Frost, D; Gabrielson, M; Gago-Dominguez, ...; Ganz, PA; Gapstur, SM; Garber, J; Garcia-Closas, M; Garcia-Saenz, JA; Gaudet, MM; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; Gonzalez-Neira, ...; Greene, MH; Gronwald, J; Guenel, P; Haiman, CA; Hall, P; Hamann, U; He, W; Heyworth, J; Hogervorst, FBL; Hollestelle, A; Hoover, RN; Hopper, JL; Hulick, PJ; Humphreys, K; Imyanitov, EN; Isaacs, C; Jakimovska, M; Jakubowska, A; James, PA; Janavicius, R; Jankowitz, RC; John, EM; Johnson, N; Joseph, V; Karlan, BY; Khusnutdinova, E; Kiiski, J; Ko, YD; Jones, ME; Konstantopoulou, ...; Kristensen, VN; Laitman, Y; Lambrechts, D; Lazaro, C; Leslie, G; Lester, J; Lesueur, F; Lindstrom, S; Long, JR; Loud, JT; Lubinski, J; Makalic, E; Mannermaa, A; Manoochehri, M; Margolin, S; Maurer, T; Mavroudis, D; McGuffog, L; Meindl, A; Menon, U; Michailidou, K; Miller, A; Montagna, M; Moreno, F; Moserle, L; Mulligan, AM; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nevelsteen, I; Nielsen, FC; Nikitina-Zake, L; Nussbaum, RL; Offit, K; Olah, E; Olopade, O; Olsson, Håkan; Osorio, A; Papp, J; Park-Simon, TW; Parsons, MT; Pedersen, IS; Peixoto, A; Peterlongo, P; Pharoah, PDP; Plaseska-Karanfi ...; Poppe, B; Presneau, N; Radice, P; Rantala, J; Rennert, G; Risch, HA; Saloustros, E; Sanden, K; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Sharma, P; Shu, XO; Simard, J; Singer, CF; Soucy, P; Southey, MC; Spinelli, JJ; Spurdle, AB; Stone, J; Swerdlow, AJ; Tapper, WJ; Taylor, JA; Teixeira, MR; Terry, MB; Teule, A; Thomassen, M; Thone, K; Thull, DL; Tischkowitz, M; Toland, AE; Torres, D; Truong, T; Tung, N; Vachon, CM; van Asperen, CJ; van den Ouweland ...; van Rensburg, EJ; Vega, A; Viel, A; Wang, Q; Wappenschmidt, B; Weitzel, JN; Wendt, C; Winqvist, R; Yang, XHR; Yannoukakos, D; Ziogas, A; Kraft, P; Antoniou, AC; Zheng, W; Easton, DF; Milne, RL; Beesley, J; Chenevix-Trench, ...; Arnold, N; Auber, B; Bogdanova-Markov ...; Borde, J; Caliebe, A; Ditsch, N; Dworniczak, B; Engert, S; Faust, U; Gehrig, A; Hahnen, E; Hauke, J; Hentschel, J; Herold, N; Honisch, E; Just, W; Kast, K; Larsen, M; Lemke, J; Nguyen, HP; Niederacher, D; Ott, CE; Platzer, K; Pohl-Rescigno, E; Ramser, J; Rhiem, K; Steinemann, D; Sutter, C; Varon-Mateeva, R; Wang-Gohrke, S; Weber, BHF; Prieur, F; Pujol, P; Sagne, C; Sevenet, N; Sobol, H; Sokolowska, J; Stoppa-Lyonnet, ...; Venat-Bouvet, L; Adlard, J; Ahmed, M; Barwell, J; Brady, A; Brewer, C; Cook, J; Davidson, R; Donaldson, A; Eason, J; Eeles, R; Evans, DG; Gregory, H; Hanson, H; Henderson, A; Hodgson, S; Izatt, L; Kennedy, MJ; Lalloo, F; Miller, C; Morrison, PJ; Ong, KR; Perkins, J; Porteous, ME; Rogers, MT; Side, LE; Snape, K; Walker, L; Harrington, PA; Heemskerk-Gerrit ...; Rookus, MA; Seynaeve, CM; van der Baan, FH; van der Hout, AH; van der Kolk, LE; van der Luijt, R ...; van Deurzen, CHM; van Doorn, HC; van Engelen, K; van Hest, L; van Os, TAM; Verhoef, S; Vogel, MJ; Wijnen, JT; Miron, A; Kapuscinski, M; Bane, A; Ross, E; Buys, SS; Conner, TA; Balleine, R; Baxter, R; Braye, S; Carpenter, J; Dahlstrom, J; Forbes, J; Lee, SC; Marsh, D; Morey, A; Pathmanathan, N; Simpson, P; Spigelman, A; Wilcken, N; Yip, D; show less...

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