Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 647-657 |
| Number of pages | 11 |
| Journal | Eur. J. Cancer |
| Volume | 120 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 2019 |
Keywords
- untranslated RNA
- estrogen receptor
- adult
- Article
- auts2 gene
- breast cancer
- cancer epidemiology
- cancer mortality
- cancer patient
- chromosome 6
- chromosome 7
- estrogen receptor negative breast cancer
- estrogen receptor positive breast cancer
- female
- galnt17 gene
- gene cluster
- gene frequency
- genome-wide association study
- germline mutation
- human
- major clinical study
- meta analysis (topic)
- mortality risk
- priority journal
- recurrence free survival
- single nucleotide polymorphism
- survival time
- tumor gene
- young adult
- Bayes theorem
- breast tumor
- Caucasian
- genetic variation
- genetics
- meta analysis
- metabolism
- mortality
- prognosis
- proportional hazards model
- Bayes Theorem
- Breast Neoplasms
- Chromosomes, Human, Pair 7
- European Continental Ancestry Group
- Female
- Genetic Variation
- Genome-Wide Association Study
- Humans
- Prognosis
- Proportional Hazards Models
- Receptors, Estrogen
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Genome-wide association study of germline variants and breast cancer-specific mortality : British Journal of Cancer. / Escala-Garcia, M.; Guo, Q.; Dörk, T.; Canisius, S.; Keeman, R.; Dennis, J.; Beesley, J.; Lecarpentier, J.; Bolla, M.K.; Wang, Q.; Abraham, J.; Andrulis, I.L.; Anton-Culver, H.; Arndt, V.; Auer, P.L.; Beckmann, M.W.; Behrens, S.; Benitez, J.; Bermisheva, M.; Bernstein, L.; Blomqvist, C.; Boeckx, B.; Bojesen, S.E.; Bonanni, B.; Børresen-Dale, A.-L.; Brauch, H.; Brenner, H.; Brentnall, A.; Brinton, L.; Broberg, P.; Brock, I.W.; Brucker, S.Y.; Burwinkel, B.; Caldas, C.; Caldés, T.; Campa, D.; Canzian, F.; Carracedo, A.; Carter, B.D.; Castelao, J.E.; Chang-Claude, J.; Chanock, S.J.; Chenevix-Trench, G.; Cheng, T.-Y.D.; Chin, S.-F.; Clarke, C.L.; Cordina-Duverger, E.; Couch, F.J.; Cox, D.G.; Cox, A.; Cross, S.S.; Czene, K.; Daly, M.B.; Devilee, P.; Dunn, J.A.; Dunning, A.M.; Durcan, L.; Dwek, M.; Earl, H.M.; Ekici, A.B.; Eliassen, A.H.; Ellberg, C.; Engel, C.; Eriksson, M.; Evans, D.G.; Figueroa, J.; Flesch-Janys, D.; Flyger, H.; Gabrielson, M.; Gago-Dominguez, M.; Galle, E.; Gapstur, S.M.; García-Closas, M.; García-Sáenz, J.A.; Gaudet, M.M.; George, A.; Georgoulias, V.; Giles, G.G.; Glendon, G.; Goldgar, D.E.; González-Neira, A.; Alnæs, G.I.G.; Grip, M.; Guénel, P.; Haeberle, L.; Hahnen, E.; Haiman, C.A.; Håkansson, N.; Hall, P.; Hamann, U.; Hankinson, S.; Harkness, E.F.; Harrington, P.A.; Hart, S.N.; Hartikainen, J.M.; Hein, A.; Hillemanns, P.; Hiller, L.; Holleczek, B.; Hollestelle, A.; Hooning, M.J.; Hoover, R.N.; Hopper, J.L.; Howell, A.; Huang, G.; Humphreys, K.; Hunter, D.J.; Janni, W.; John, E.M.; Jones, M.E.; Jukkola-Vuorinen, A.; Jung, A.; Kaaks, R.; Kabisch, M.; Kaczmarek, K.; Kerin, M.J.; Khan, S.; Khusnutdinova, E.; Kiiski, J.I.; Kitahara, C.M.; Knight, J.A.; Ko, Y.-D.; Koppert, L.B.; Kosma, V.-M.; Kraft, P.; Kristensen, V.N.; Krüger, U.; Kühl, T.; Lambrechts, D.; Le Marchand, L.; Lee, E.; Lejbkowicz, F.; Li, L.; Lindblom, A.; Lindström, S.; Linet, M.; Lissowska, J.; Lo, W.-Y.; Loibl, S.; Lubiński, J.; Lux, M.P.; MacInnis, R.J.; Maierthaler, M.; Maishman, T.; Makalic, E.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Martinez, M.E.; Mavroudis, D.; McLean, C.; Meindl, A.; Middha, P.; Miller, N.; Milne, R.L.; Moreno, F.; Mulligan, A.M.; Mulot, C.; Nassir, R.; Neuhausen, S.L.; Newman, W.T.; Nielsen, S.F.; Nordestgaard, B.G.; Norman, A.; Olsson, H.; Orr, N.; Pankratz, V.S.; Park-Simon, T.-W.; Perez, J.I.A.; Pérez-Barrios, C.; Peterlongo, P.; Petridis, C.; Pinchev, M.; Prajzendanc, K.; Prentice, R.; Presneau, N.; Prokofieva, D.; Pylkäs, K.; Rack, B.; Radice, P.; Ramachandran, D.; Rennert, G.; Rennert, H.S.; Rhenius, V.; Romero, A.; Roylance, R.; Saloustros, E.; Sawyer, E.J.; Schmidt, D.F.; Schmutzler, R.K.; Schneeweiss, A.; Schoemaker, M.J.; Schumacher, F.; Schwentner, L.; Scott, R.J.; Scott, C.; Seynaeve, C.; Shah, M.; Simard, J.; Smeets, A.; Sohn, C.; Southey, M.C.; Swerdlow, A.J.; Talhouk, A.; Tamimi, R.M.; Tapper, W.J.; Teixeira, M.R.; Tengström, M.; Terry, M.B.; Thöne, K.; Tollenaar, R.A.E.M.; Tomlinson, I.; Torres, D.; Truong, T.; Turman, C.; Turnbull, C.; Ulmer, H.-U.; Untch, M.; Vachon, C.; van Asperen, C.J.; van den Ouweland, A.M.W.; van Veen, E.M.; Wendt, C.; Whittemore, A.S.; Willett, W.; Winqvist, R.; Wolk, A.; Yang, X.R.; Zhang, Y.; Easton, D.F.; Fasching, P.A.; Nevanlinna, H.; Eccles, D.M.; Pharoah, P.D.P.; Schmidt, M.K.; Collaborators, NBCS.
In: Eur. J. Cancer, Vol. 120, No. 6, 2019, p. 647-657.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Genome-wide association study of germline variants and breast cancer-specific mortality
T2 - British Journal of Cancer
AU - Escala-Garcia, M.
AU - Guo, Q.
AU - Dörk, T.
AU - Canisius, S.
AU - Keeman, R.
AU - Dennis, J.
AU - Beesley, J.
AU - Lecarpentier, J.
AU - Bolla, M.K.
AU - Wang, Q.
AU - Abraham, J.
AU - Andrulis, I.L.
AU - Anton-Culver, H.
AU - Arndt, V.
AU - Auer, P.L.
AU - Beckmann, M.W.
AU - Behrens, S.
AU - Benitez, J.
AU - Bermisheva, M.
AU - Bernstein, L.
AU - Blomqvist, C.
AU - Boeckx, B.
AU - Bojesen, S.E.
AU - Bonanni, B.
AU - Børresen-Dale, A.-L.
AU - Brauch, H.
AU - Brenner, H.
AU - Brentnall, A.
AU - Brinton, L.
AU - Broberg, P.
AU - Brock, I.W.
AU - Brucker, S.Y.
AU - Burwinkel, B.
AU - Caldas, C.
AU - Caldés, T.
AU - Campa, D.
AU - Canzian, F.
AU - Carracedo, A.
AU - Carter, B.D.
AU - Castelao, J.E.
AU - Chang-Claude, J.
AU - Chanock, S.J.
AU - Chenevix-Trench, G.
AU - Cheng, T.-Y.D.
AU - Chin, S.-F.
AU - Clarke, C.L.
AU - Cordina-Duverger, E.
AU - Couch, F.J.
AU - Cox, D.G.
AU - Cox, A.
AU - Cross, S.S.
AU - Czene, K.
AU - Daly, M.B.
AU - Devilee, P.
AU - Dunn, J.A.
AU - Dunning, A.M.
AU - Durcan, L.
AU - Dwek, M.
AU - Earl, H.M.
AU - Ekici, A.B.
AU - Eliassen, A.H.
AU - Ellberg, C.
AU - Engel, C.
AU - Eriksson, M.
AU - Evans, D.G.
AU - Figueroa, J.
AU - Flesch-Janys, D.
AU - Flyger, H.
AU - Gabrielson, M.
AU - Gago-Dominguez, M.
AU - Galle, E.
AU - Gapstur, S.M.
AU - García-Closas, M.
AU - García-Sáenz, J.A.
AU - Gaudet, M.M.
AU - George, A.
AU - Georgoulias, V.
AU - Giles, G.G.
AU - Glendon, G.
AU - Goldgar, D.E.
AU - González-Neira, A.
AU - Alnæs, G.I.G.
AU - Grip, M.
AU - Guénel, P.
AU - Haeberle, L.
AU - Hahnen, E.
AU - Haiman, C.A.
AU - Håkansson, N.
AU - Hall, P.
AU - Hamann, U.
AU - Hankinson, S.
AU - Harkness, E.F.
AU - Harrington, P.A.
AU - Hart, S.N.
AU - Hartikainen, J.M.
AU - Hein, A.
AU - Hillemanns, P.
AU - Hiller, L.
AU - Holleczek, B.
AU - Hollestelle, A.
AU - Hooning, M.J.
AU - Hoover, R.N.
AU - Hopper, J.L.
AU - Howell, A.
AU - Huang, G.
AU - Humphreys, K.
AU - Hunter, D.J.
AU - Janni, W.
AU - John, E.M.
AU - Jones, M.E.
AU - Jukkola-Vuorinen, A.
AU - Jung, A.
AU - Kaaks, R.
AU - Kabisch, M.
AU - Kaczmarek, K.
AU - Kerin, M.J.
AU - Khan, S.
AU - Khusnutdinova, E.
AU - Kiiski, J.I.
AU - Kitahara, C.M.
AU - Knight, J.A.
AU - Ko, Y.-D.
AU - Koppert, L.B.
AU - Kosma, V.-M.
AU - Kraft, P.
AU - Kristensen, V.N.
AU - Krüger, U.
AU - Kühl, T.
AU - Lambrechts, D.
AU - Le Marchand, L.
AU - Lee, E.
AU - Lejbkowicz, F.
AU - Li, L.
AU - Lindblom, A.
AU - Lindström, S.
AU - Linet, M.
AU - Lissowska, J.
AU - Lo, W.-Y.
AU - Loibl, S.
AU - Lubiński, J.
AU - Lux, M.P.
AU - MacInnis, R.J.
AU - Maierthaler, M.
AU - Maishman, T.
AU - Makalic, E.
AU - Mannermaa, A.
AU - Manoochehri, M.
AU - Manoukian, S.
AU - Margolin, S.
AU - Martinez, M.E.
AU - Mavroudis, D.
AU - McLean, C.
AU - Meindl, A.
AU - Middha, P.
AU - Miller, N.
AU - Milne, R.L.
AU - Moreno, F.
AU - Mulligan, A.M.
AU - Mulot, C.
AU - Nassir, R.
AU - Neuhausen, S.L.
AU - Newman, W.T.
AU - Nielsen, S.F.
AU - Nordestgaard, B.G.
AU - Norman, A.
AU - Olsson, H.
AU - Orr, N.
AU - Pankratz, V.S.
AU - Park-Simon, T.-W.
AU - Perez, J.I.A.
AU - Pérez-Barrios, C.
AU - Peterlongo, P.
AU - Petridis, C.
AU - Pinchev, M.
AU - Prajzendanc, K.
AU - Prentice, R.
AU - Presneau, N.
AU - Prokofieva, D.
AU - Pylkäs, K.
AU - Rack, B.
AU - Radice, P.
AU - Ramachandran, D.
AU - Rennert, G.
AU - Rennert, H.S.
AU - Rhenius, V.
AU - Romero, A.
AU - Roylance, R.
AU - Saloustros, E.
AU - Sawyer, E.J.
AU - Schmidt, D.F.
AU - Schmutzler, R.K.
AU - Schneeweiss, A.
AU - Schoemaker, M.J.
AU - Schumacher, F.
AU - Schwentner, L.
AU - Scott, R.J.
AU - Scott, C.
AU - Seynaeve, C.
AU - Shah, M.
AU - Simard, J.
AU - Smeets, A.
AU - Sohn, C.
AU - Southey, M.C.
AU - Swerdlow, A.J.
AU - Talhouk, A.
AU - Tamimi, R.M.
AU - Tapper, W.J.
AU - Teixeira, M.R.
AU - Tengström, M.
AU - Terry, M.B.
AU - Thöne, K.
AU - Tollenaar, R.A.E.M.
AU - Tomlinson, I.
AU - Torres, D.
AU - Truong, T.
AU - Turman, C.
AU - Turnbull, C.
AU - Ulmer, H.-U.
AU - Untch, M.
AU - Vachon, C.
AU - van Asperen, C.J.
AU - van den Ouweland, A.M.W.
AU - van Veen, E.M.
AU - Wendt, C.
AU - Whittemore, A.S.
AU - Willett, W.
AU - Winqvist, R.
AU - Wolk, A.
AU - Yang, X.R.
AU - Zhang, Y.
AU - Easton, D.F.
AU - Fasching, P.A.
AU - Nevanlinna, H.
AU - Eccles, D.M.
AU - Pharoah, P.D.P.
AU - Schmidt, M.K.
AU - Collaborators, NBCS
N1 - Cited By :3 Export Date: 26 February 2020 CODEN: BJCAA Correspondence Address: Guo, Q.; University of Cambridge, Cardiovascular Epidemiology Unit, Department of Public Health and Primary CareUnited Kingdom; email: qg209@medschl.cam.ac.uk Chemicals/CAS: Receptors, Estrogen Funding details: Breast Cancer Now Funding details: KWF Kankerbestrijding, 2007-3839 Funding details: KWF Kankerbestrijding, 2009 4363 Funding details: Breast Cancer Campaign, 2010PR62 Funding details: Breast Cancer Campaign, 2013PR044 Funding details: Biotieteiden ja Ympäristön Tutkimuksen Toimikunta, 266528 Funding details: Cancer Research UK, C1275/A11699 Funding details: Cancer Research UK, C1275/A15956 Funding details: Cancer Research UK, C1275/A19187 Funding details: Cancer Research UK, C1275/C22524 Funding details: Cancer Research UK, C1287/A10118 Funding details: Cancer Research UK, C1287/A16563 Funding details: Cancer Research UK Funding details: Cancer Research UK, C490/A10124 Funding details: Cancer Research UK, C490/A16561 Funding details: Air Force Materiel Command, DAMD17-01-1-0729 Funding details: National Breast Cancer Foundation Funding details: Sigrid Juséliuksen Säätiö References: http://globocan.iarc.fr/Pages/fact_sheets_cancer.aspx; Hartman, M., Lindström, L., Dickman, P.W., Adami, H.O., Hall, P., Czene, K., Is breast cancer prognosis inherited? 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PY - 2019
Y1 - 2019
N2 - Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10 −8 . For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10 −7 , hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10 −7 , HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients. © 2019, The Author(s).
AB - Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10 −8 . For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10 −7 , hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10 −7 , HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients. © 2019, The Author(s).
KW - untranslated RNA
KW - estrogen receptor
KW - adult
KW - Article
KW - auts2 gene
KW - breast cancer
KW - cancer epidemiology
KW - cancer mortality
KW - cancer patient
KW - chromosome 6
KW - chromosome 7
KW - estrogen receptor negative breast cancer
KW - estrogen receptor positive breast cancer
KW - female
KW - galnt17 gene
KW - gene cluster
KW - gene frequency
KW - genome-wide association study
KW - germline mutation
KW - human
KW - major clinical study
KW - meta analysis (topic)
KW - mortality risk
KW - priority journal
KW - recurrence free survival
KW - single nucleotide polymorphism
KW - survival time
KW - tumor gene
KW - young adult
KW - Bayes theorem
KW - breast tumor
KW - Caucasian
KW - genetic variation
KW - genetics
KW - meta analysis
KW - metabolism
KW - mortality
KW - prognosis
KW - proportional hazards model
KW - Bayes Theorem
KW - Breast Neoplasms
KW - Chromosomes, Human, Pair 7
KW - European Continental Ancestry Group
KW - Female
KW - Genetic Variation
KW - Genome-Wide Association Study
KW - Humans
KW - Prognosis
KW - Proportional Hazards Models
KW - Receptors, Estrogen
U2 - 10.1038/s41416-019-0393-x
DO - 10.1038/s41416-019-0393-x
M3 - Article
VL - 120
SP - 647
EP - 657
JO - Eur. J. Cancer
JF - Eur. J. Cancer
SN - 0959-8049
IS - 6
ER -