Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

K. N. Stevens; M. Garcia-Closas; Z. Fredericksen; M. Kosel; V. S. Pankratz; J. L. Hopper; G. S. Dite; C. Apicella; M. C. Southey; M. K. Schmidt; A. Broeks; L. J. Van T Veer; R. A.E.M. Tollenaar; P. A. Fasching; M. W. Beckmann; A. Hein; A. B. Ekici; N. Johnson; J. Peto; I. Dos Santos Silva; L. Gibson; E. Sawyer; I. Tomlinson; M. J. Kerin; S. Chanock; J. Lissowska; D. J. Hunter; R. N. Hoover; G. D. Thomas; R. L. Milne; Ji Arias Pérez; A. González-Neira; J. Benítez; B. Burwinkel; A. Meindl; R. K. Schmutzler; C. R. Bartrar; U. Hamann; Y. D. Ko; T. Brüning; J. Chang-Claude; R. Hein; S. Wang-Gohrke; T. Dörk; P. Schürmann; M. Bremer; P. Hillemanns; N. Bogdanova; J. V. Zalutsky; Y. I. Rogov; N. Antonenkova; A. Lindblom; S. Margolin; A. Mannermaa; V. Kataja; V. M. Kosma; J. Hartikainen; G. Chenevix-Trench; X. Chen; P. Peterlongo; B. Bonanni; L. Bernard; S. Manoukian; X. Wang; J. Cerhan; C. M. Vachon; J. Olson; G. G. Giles; L. Baglietto; C. A. McLean; G. Severi; E. M. John; A. Miron; R. Winqvist; K. Pylkäs; A. Jukkola-Vuorinen; M. Grip; I. Andrulis; J. A. Knight; G. Glendon; A. M. Mulligan; A. Cox; I. W. Brock; G. Elliott; S. S. Cross; P. P. Pharoah; A. M. Dunning; K. A. Pooley; M. K. Humphreys; J. Wang; D. Kang; K. Y. Yoo; D. Y. Noh; S. Sangrajrang; V. Gabrieau; P. Brennan; J. McKay; H. Anton-Culver; A. Ziogas; F. J. Couch; D. F. Easton

doi:10.1038/bjc.2011.448

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

K. N. Stevens, M. Garcia-Closas, Z. Fredericksen, M. Kosel, V. S. Pankratz, J. L. Hopper, G. S. Dite, C. Apicella, M. C. Southey, M. K. Schmidt, A. Broeks, L. J. Van T Veer, R. A.E.M. Tollenaar, P. A. Fasching, M. W. Beckmann, A. Hein, A. B. Ekici, N. Johnson, J. Peto, I. Dos Santos SilvaL. Gibson, E. Sawyer, I. Tomlinson, M. J. Kerin, S. Chanock, J. Lissowska, D. J. Hunter, R. N. Hoover, G. D. Thomas, R. L. Milne, Ji Arias Pérez, A. González-Neira, J. Benítez, B. Burwinkel, A. Meindl, R. K. Schmutzler, C. R. Bartrar, U. Hamann, Y. D. Ko, T. Brüning, J. Chang-Claude, R. Hein, S. Wang-Gohrke, T. Dörk, P. Schürmann, M. Bremer, P. Hillemanns, N. Bogdanova, J. V. Zalutsky, Y. I. Rogov, N. Antonenkova, A. Lindblom, S. Margolin, A. Mannermaa, V. Kataja, V. M. Kosma, J. Hartikainen, G. Chenevix-Trench, X. Chen, P. Peterlongo, B. Bonanni, L. Bernard, S. Manoukian, X. Wang, J. Cerhan, C. M. Vachon, J. Olson, G. G. Giles, L. Baglietto, C. A. McLean, G. Severi, E. M. John, A. Miron, R. Winqvist, K. Pylkäs, A. Jukkola-Vuorinen, M. Grip, I. Andrulis, J. A. Knight, G. Glendon, A. M. Mulligan, A. Cox, I. W. Brock, G. Elliott, S. S. Cross, P. P. Pharoah, A. M. Dunning, K. A. Pooley, M. K. Humphreys, J. Wang, D. Kang, K. Y. Yoo, D. Y. Noh, S. Sangrajrang, V. Gabrieau, P. Brennan, J. McKay, H. Anton-Culver, A. Ziogas, F. J. Couch, D. F. Easton

Research output: Contribution to journal › Article

3 Scopus citations

Abstract

Background: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor receptor-2 overexpression, lymph node metastasis and poor survival. The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer. Methods: A single-nucleotide polymorphism from the PIK3CA locus that was associated with breast cancer in a study of Caucasian breast cancer cases and controls from the Mayo Clinic (MCBCS) was genotyped in 5436 cases and 5280 controls from the Cancer Genetic Markers of Susceptibility (CGEMS) study and in 30 949 cases and 29 788 controls from the Breast Cancer Association Consortium (BCAC). Results: Rs1607237 was significantly associated with a decreased risk of breast cancer in MCBCS, CGEMS and all studies of white Europeans combined (odds ratio (OR)=0.97, 95% confidence interval (CI) 0.95-0.99, P=4.6 × 10 3), but did not reach significance in the BCAC replication study alone (OR=0.98, 95% CI 0.96-1.01, P=0.139).Conclusion: Common germline variation in PIK3CA does not have a strong influence on the risk of breast cancer.

Original language	English (US)
Pages (from-to)	1934-1939
Number of pages	6
Journal	British journal of cancer
Volume	105
Issue number	12
DOIs	https://doi.org/10.1038/bjc.2011.448
State	Published - Dec 6 2011

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Keywords

Association study
Genetic susceptibility
Neoplasms

ASJC Scopus subject areas

Oncology
Cancer Research

Cite this

Stevens, K. N., Garcia-Closas, M., Fredericksen, Z., Kosel, M., Pankratz, V. S., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van T Veer, L. J., Tollenaar, R. A. E. M., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Johnson, N., Peto, J., ... Easton, D. F. (2011). Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. British journal of cancer, 105(12), 1934-1939. https://doi.org/10.1038/bjc.2011.448

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. / Stevens, K. N.; Garcia-Closas, M.; Fredericksen, Z.; Kosel, M.; Pankratz, V. S.; Hopper, J. L.; Dite, G. S.; Apicella, C.; Southey, M. C.; Schmidt, M. K.; Broeks, A.; Van T Veer, L. J.; Tollenaar, R. A.E.M.; Fasching, P. A.; Beckmann, M. W.; Hein, A.; Ekici, A. B.; Johnson, N.; Peto, J.; Dos Santos Silva, I.; Gibson, L.; Sawyer, E.; Tomlinson, I.; Kerin, M. J.; Chanock, S.; Lissowska, J.; Hunter, D. J.; Hoover, R. N.; Thomas, G. D.; Milne, R. L.; Pérez, Ji Arias; González-Neira, A.; Benítez, J.; Burwinkel, B.; Meindl, A.; Schmutzler, R. K.; Bartrar, C. R.; Hamann, U.; Ko, Y. D.; Brüning, T.; Chang-Claude, J.; Hein, R.; Wang-Gohrke, S.; Dörk, T.; Schürmann, P.; Bremer, M.; Hillemanns, P.; Bogdanova, N.; Zalutsky, J. V.; Rogov, Y. I.; Antonenkova, N.; Lindblom, A.; Margolin, S.; Mannermaa, A.; Kataja, V.; Kosma, V. M.; Hartikainen, J.; Chenevix-Trench, G.; Chen, X.; Peterlongo, P.; Bonanni, B.; Bernard, L.; Manoukian, S.; Wang, X.; Cerhan, J.; Vachon, C. M.; Olson, J.; Giles, G. G.; Baglietto, L.; McLean, C. A.; Severi, G.; John, E. M.; Miron, A.; Winqvist, R.; Pylkäs, K.; Jukkola-Vuorinen, A.; Grip, M.; Andrulis, I.; Knight, J. A.; Glendon, G.; Mulligan, A. M.; Cox, A.; Brock, I. W.; Elliott, G.; Cross, S. S.; Pharoah, P. P.; Dunning, A. M.; Pooley, K. A.; Humphreys, M. K.; Wang, J.; Kang, D.; Yoo, K. Y.; Noh, D. Y.; Sangrajrang, S.; Gabrieau, V.; Brennan, P.; McKay, J.; Anton-Culver, H.; Ziogas, A.; Couch, F. J.; Easton, D. F.

In: British journal of cancer, Vol. 105, No. 12, 06.12.2011, p. 1934-1939.

Research output: Contribution to journal › Article

Stevens, KN, Garcia-Closas, M, Fredericksen, Z, Kosel, M, Pankratz, VS, Hopper, JL, Dite, GS, Apicella, C, Southey, MC, Schmidt, MK, Broeks, A, Van T Veer, LJ, Tollenaar, RAEM, Fasching, PA, Beckmann, MW, Hein, A, Ekici, AB, Johnson, N, Peto, J, Dos Santos Silva, I, Gibson, L, Sawyer, E, Tomlinson, I, Kerin, MJ, Chanock, S, Lissowska, J, Hunter, DJ, Hoover, RN, Thomas, GD, Milne, RL, Pérez, JA, González-Neira, A, Benítez, J, Burwinkel, B, Meindl, A, Schmutzler, RK, Bartrar, CR, Hamann, U, Ko, YD, Brüning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dörk, T, Schürmann, P, Bremer, M, Hillemanns, P, Bogdanova, N, Zalutsky, JV, Rogov, YI, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, J, Chenevix-Trench, G, Chen, X, Peterlongo, P, Bonanni, B, Bernard, L, Manoukian, S, Wang, X, Cerhan, J , Vachon, CM , Olson, J, Giles, GG, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, JA, Glendon, G, Mulligan, AM, Cox, A, Brock, IW, Elliott, G, Cross, SS, Pharoah, PP, Dunning, AM, Pooley, KA, Humphreys, MK, Wang, J, Kang, D, Yoo, KY, Noh, DY, Sangrajrang, S, Gabrieau, V, Brennan, P, McKay, J, Anton-Culver, H, Ziogas, A, Couch, FJ & Easton, DF 2011, 'Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk', British journal of cancer, vol. 105, no. 12, pp. 1934-1939. https://doi.org/10.1038/bjc.2011.448

Stevens, K. N. ; Garcia-Closas, M. ; Fredericksen, Z. ; Kosel, M. ; Pankratz, V. S. ; Hopper, J. L. ; Dite, G. S. ; Apicella, C. ; Southey, M. C. ; Schmidt, M. K. ; Broeks, A. ; Van T Veer, L. J. ; Tollenaar, R. A.E.M. ; Fasching, P. A. ; Beckmann, M. W. ; Hein, A. ; Ekici, A. B. ; Johnson, N. ; Peto, J. ; Dos Santos Silva, I. ; Gibson, L. ; Sawyer, E. ; Tomlinson, I. ; Kerin, M. J. ; Chanock, S. ; Lissowska, J. ; Hunter, D. J. ; Hoover, R. N. ; Thomas, G. D. ; Milne, R. L. ; Pérez, Ji Arias ; González-Neira, A. ; Benítez, J. ; Burwinkel, B. ; Meindl, A. ; Schmutzler, R. K. ; Bartrar, C. R. ; Hamann, U. ; Ko, Y. D. ; Brüning, T. ; Chang-Claude, J. ; Hein, R. ; Wang-Gohrke, S. ; Dörk, T. ; Schürmann, P. ; Bremer, M. ; Hillemanns, P. ; Bogdanova, N. ; Zalutsky, J. V. ; Rogov, Y. I. ; Antonenkova, N. ; Lindblom, A. ; Margolin, S. ; Mannermaa, A. ; Kataja, V. ; Kosma, V. M. ; Hartikainen, J. ; Chenevix-Trench, G. ; Chen, X. ; Peterlongo, P. ; Bonanni, B. ; Bernard, L. ; Manoukian, S. ; Wang, X. ; Cerhan, J. ; Vachon, C. M. ; Olson, J. ; Giles, G. G. ; Baglietto, L. ; McLean, C. A. ; Severi, G. ; John, E. M. ; Miron, A. ; Winqvist, R. ; Pylkäs, K. ; Jukkola-Vuorinen, A. ; Grip, M. ; Andrulis, I. ; Knight, J. A. ; Glendon, G. ; Mulligan, A. M. ; Cox, A. ; Brock, I. W. ; Elliott, G. ; Cross, S. S. ; Pharoah, P. P. ; Dunning, A. M. ; Pooley, K. A. ; Humphreys, M. K. ; Wang, J. ; Kang, D. ; Yoo, K. Y. ; Noh, D. Y. ; Sangrajrang, S. ; Gabrieau, V. ; Brennan, P. ; McKay, J. ; Anton-Culver, H. ; Ziogas, A. ; Couch, F. J. ; Easton, D. F. / Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. In: British journal of cancer. 2011 ; Vol. 105, No. 12. pp. 1934-1939.

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title = "Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk",

abstract = "Background: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor receptor-2 overexpression, lymph node metastasis and poor survival. The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer. Methods: A single-nucleotide polymorphism from the PIK3CA locus that was associated with breast cancer in a study of Caucasian breast cancer cases and controls from the Mayo Clinic (MCBCS) was genotyped in 5436 cases and 5280 controls from the Cancer Genetic Markers of Susceptibility (CGEMS) study and in 30 949 cases and 29 788 controls from the Breast Cancer Association Consortium (BCAC). Results: Rs1607237 was significantly associated with a decreased risk of breast cancer in MCBCS, CGEMS and all studies of white Europeans combined (odds ratio (OR)=0.97, 95% confidence interval (CI) 0.95-0.99, P=4.6 × 10 3), but did not reach significance in the BCAC replication study alone (OR=0.98, 95% CI 0.96-1.01, P=0.139).Conclusion: Common germline variation in PIK3CA does not have a strong influence on the risk of breast cancer.",

keywords = "Association study, Genetic susceptibility, Neoplasms",

author = "Stevens, {K. N.} and M. Garcia-Closas and Z. Fredericksen and M. Kosel and Pankratz, {V. S.} and Hopper, {J. L.} and Dite, {G. S.} and C. Apicella and Southey, {M. C.} and Schmidt, {M. K.} and A. Broeks and {Van T Veer}, {L. J.} and Tollenaar, {R. A.E.M.} and Fasching, {P. A.} and Beckmann, {M. W.} and A. Hein and Ekici, {A. B.} and N. Johnson and J. Peto and {Dos Santos Silva}, I. and L. Gibson and E. Sawyer and I. Tomlinson and Kerin, {M. J.} and S. Chanock and J. Lissowska and Hunter, {D. J.} and Hoover, {R. N.} and Thomas, {G. D.} and Milne, {R. L.} and P{\'e}rez, {Ji Arias} and A. Gonz{\'a}lez-Neira and J. Ben{\'i}tez and B. Burwinkel and A. Meindl and Schmutzler, {R. K.} and Bartrar, {C. R.} and U. Hamann and Ko, {Y. D.} and T. Br{\"u}ning and J. Chang-Claude and R. Hein and S. Wang-Gohrke and T. D{\"o}rk and P. Sch{\"u}rmann and M. Bremer and P. Hillemanns and N. Bogdanova and Zalutsky, {J. V.} and Rogov, {Y. I.} and N. Antonenkova and A. Lindblom and S. Margolin and A. Mannermaa and V. Kataja and Kosma, {V. M.} and J. Hartikainen and G. Chenevix-Trench and X. Chen and P. Peterlongo and B. Bonanni and L. Bernard and S. Manoukian and X. Wang and J. Cerhan and Vachon, {C. M.} and J. Olson and Giles, {G. G.} and L. Baglietto and McLean, {C. A.} and G. Severi and John, {E. M.} and A. Miron and R. Winqvist and K. Pylk{\"a}s and A. Jukkola-Vuorinen and M. Grip and I. Andrulis and Knight, {J. A.} and G. Glendon and Mulligan, {A. M.} and A. Cox and Brock, {I. W.} and G. Elliott and Cross, {S. S.} and Pharoah, {P. P.} and Dunning, {A. M.} and Pooley, {K. A.} and Humphreys, {M. K.} and J. Wang and D. Kang and Yoo, {K. Y.} and Noh, {D. Y.} and S. Sangrajrang and V. Gabrieau and P. Brennan and J. McKay and H. Anton-Culver and A. Ziogas and Couch, {F. J.} and Easton, {D. F.}",

year = "2011",

month = dec,

day = "6",

doi = "10.1038/bjc.2011.448",

language = "English (US)",

volume = "105",

pages = "1934--1939",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Nature Publishing Group",

number = "12",

}

TY - JOUR

T1 - Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

AU - Stevens, K. N.

AU - Garcia-Closas, M.

AU - Fredericksen, Z.

AU - Kosel, M.

AU - Pankratz, V. S.

AU - Hopper, J. L.

AU - Dite, G. S.

AU - Apicella, C.

AU - Southey, M. C.

AU - Schmidt, M. K.

AU - Broeks, A.

AU - Van T Veer, L. J.

AU - Tollenaar, R. A.E.M.

AU - Fasching, P. A.

AU - Beckmann, M. W.

AU - Hein, A.

AU - Ekici, A. B.

AU - Johnson, N.

AU - Peto, J.

AU - Dos Santos Silva, I.

AU - Gibson, L.

AU - Sawyer, E.

AU - Tomlinson, I.

AU - Kerin, M. J.

AU - Chanock, S.

AU - Lissowska, J.

AU - Hunter, D. J.

AU - Hoover, R. N.

AU - Thomas, G. D.

AU - Milne, R. L.

AU - Pérez, Ji Arias

AU - González-Neira, A.

AU - Benítez, J.

AU - Burwinkel, B.

AU - Meindl, A.

AU - Schmutzler, R. K.

AU - Bartrar, C. R.

AU - Hamann, U.

AU - Ko, Y. D.

AU - Brüning, T.

AU - Chang-Claude, J.

AU - Hein, R.

AU - Wang-Gohrke, S.

AU - Dörk, T.

AU - Schürmann, P.

AU - Bremer, M.

AU - Hillemanns, P.

AU - Bogdanova, N.

AU - Zalutsky, J. V.

AU - Rogov, Y. I.

AU - Antonenkova, N.

AU - Lindblom, A.

AU - Margolin, S.

AU - Mannermaa, A.

AU - Kataja, V.

AU - Kosma, V. M.

AU - Hartikainen, J.

AU - Chenevix-Trench, G.

AU - Chen, X.

AU - Peterlongo, P.

AU - Bonanni, B.

AU - Bernard, L.

AU - Manoukian, S.

AU - Wang, X.

AU - Cerhan, J.

AU - Vachon, C. M.

AU - Olson, J.

AU - Giles, G. G.

AU - Baglietto, L.

AU - McLean, C. A.

AU - Severi, G.

AU - John, E. M.

AU - Miron, A.

AU - Winqvist, R.

AU - Pylkäs, K.

AU - Jukkola-Vuorinen, A.

AU - Grip, M.

AU - Andrulis, I.

AU - Knight, J. A.

AU - Glendon, G.

AU - Mulligan, A. M.

AU - Cox, A.

AU - Brock, I. W.

AU - Elliott, G.

AU - Cross, S. S.

AU - Pharoah, P. P.

AU - Dunning, A. M.

AU - Pooley, K. A.

AU - Humphreys, M. K.

AU - Wang, J.

AU - Kang, D.

AU - Yoo, K. Y.

AU - Noh, D. Y.

AU - Sangrajrang, S.

AU - Gabrieau, V.

AU - Brennan, P.

AU - McKay, J.

AU - Anton-Culver, H.

AU - Ziogas, A.

AU - Couch, F. J.

AU - Easton, D. F.

PY - 2011/12/6

Y1 - 2011/12/6

N2 - Background: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor receptor-2 overexpression, lymph node metastasis and poor survival. The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer. Methods: A single-nucleotide polymorphism from the PIK3CA locus that was associated with breast cancer in a study of Caucasian breast cancer cases and controls from the Mayo Clinic (MCBCS) was genotyped in 5436 cases and 5280 controls from the Cancer Genetic Markers of Susceptibility (CGEMS) study and in 30 949 cases and 29 788 controls from the Breast Cancer Association Consortium (BCAC). Results: Rs1607237 was significantly associated with a decreased risk of breast cancer in MCBCS, CGEMS and all studies of white Europeans combined (odds ratio (OR)=0.97, 95% confidence interval (CI) 0.95-0.99, P=4.6 × 10 3), but did not reach significance in the BCAC replication study alone (OR=0.98, 95% CI 0.96-1.01, P=0.139).Conclusion: Common germline variation in PIK3CA does not have a strong influence on the risk of breast cancer.

AB - Background: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor receptor-2 overexpression, lymph node metastasis and poor survival. The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer. Methods: A single-nucleotide polymorphism from the PIK3CA locus that was associated with breast cancer in a study of Caucasian breast cancer cases and controls from the Mayo Clinic (MCBCS) was genotyped in 5436 cases and 5280 controls from the Cancer Genetic Markers of Susceptibility (CGEMS) study and in 30 949 cases and 29 788 controls from the Breast Cancer Association Consortium (BCAC). Results: Rs1607237 was significantly associated with a decreased risk of breast cancer in MCBCS, CGEMS and all studies of white Europeans combined (odds ratio (OR)=0.97, 95% confidence interval (CI) 0.95-0.99, P=4.6 × 10 3), but did not reach significance in the BCAC replication study alone (OR=0.98, 95% CI 0.96-1.01, P=0.139).Conclusion: Common germline variation in PIK3CA does not have a strong influence on the risk of breast cancer.

KW - Association study

KW - Genetic susceptibility

KW - Neoplasms

UR - http://www.scopus.com/inward/record.url?scp=84856024444&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84856024444&partnerID=8YFLogxK

U2 - 10.1038/bjc.2011.448

DO - 10.1038/bjc.2011.448

M3 - Article

C2 - 22033276

AN - SCOPUS:84856024444

VL - 105

SP - 1934

EP - 1939

JO - British Journal of Cancer

JF - British Journal of Cancer

SN - 0007-0920

IS - 12

ER -

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10.1038/bjc.2011.448