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

Ferreira, MA (author)
QIMR Berghofer Medical Research Institute
Gamazon, ER (author)
Al-Ejeh, F (author)
show more...
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, Åke (author)
Lund 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
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, K (author)
Karolinska Institutet
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, Carolina (author)
Lund 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
Engel, C (author)
Eriksson, M (author)
Karolinska Institutet
Fasching, PA (author)
Fletcher, O (author)
Flyger, H (author)
Friedman, E (author)
Frost, D (author)
Gabrielson, M (author)
Karolinska Institutet
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, P (author)
Karolinska Institutet
Hamann, U (author)
He, W (author)
Karolinska Institutet
Heyworth, J (author)
Hogervorst, FBL (author)
Hollestelle, A (author)
Hoover, RN (author)
Hopper, JL (author)
Hulick, PJ (author)
Humphreys, K (author)
Karolinska Institutet
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, S (author)
Karolinska Institutet
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, Håkan (author)
Lund 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
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, J (author)
Karolinska Institutet
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, C (author)
Karolinska Institutet
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)
show less...
 (creator_code:org_t)
2019-04-15
2019
English.
In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741-
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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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...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Cancer and Oncol ...
Articles in the publication
Nature communica ...
By the university
Karolinska Institutet
Lund University

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