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; Robert A. E. M. Tollenaar; P. A. Fasching; M. W. Beckmann; A. Hein; A. B. Ekici; N Johnson; J. Peto; Isabel 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; Javier Benítez; B. Burwinkel; A. Meindl; R. K. Schmutzler; C R Bartrar; U. Hamann; Y D Ko; Thomas Brüning; J. Chang-Claude; R. Hein; S. Wang-Gohrke; T. Dörk; P. Schürmann; Michael 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; Loris Bernard; S. Manoukian; X Wang; J Cerhan; C M Vachon; J Olson; G. G. Giles; L. Baglietto; C. A. McLean; Gianluca Severi; E. M. John; A. Miron; R. Winqvist; K. Pylkäs; Arja Jukkola-Vuorinen; M. Grip; I Andrulis; J. A. Knight; G. Glendon; A. M. Mulligan; A Cox; I. W. Brock; Graeme 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; Paul Brennan; James McKay; H. Anton-Culver; A. Ziogas; F. J. Couch; D. F. Easton

doi:10.13025/27606

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
, Robert A. E. M. Tollenaar
, P. A. Fasching
, M. W. Beckmann
, A. Hein
, A. B. Ekici
, N Johnson
, J. Peto
, Isabel 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, Javier Benítez, B. Burwinkel, A. Meindl, R. K. Schmutzler, C R Bartrar, U. Hamann, Y D Ko, Thomas Brüning, J. Chang-Claude, R. Hein, S. Wang-Gohrke, T. Dörk, P. Schürmann, Michael 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, Loris Bernard, S. Manoukian, X Wang, J Cerhan, C M Vachon, J Olson, G. G. Giles, L. Baglietto, C. A. McLean, Gianluca Severi, E. M. John, A. Miron, R. Winqvist, K. Pylkäs, Arja Jukkola-Vuorinen, M. Grip, I Andrulis, J. A. Knight, G. Glendon, A. M. Mulligan, A Cox, I. W. Brock, Graeme 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, Paul Brennan, James McKay, H. Anton-Culver, A. Ziogas, F. J. Couch, D. F. Easton

Mayo Clinic
Divisions of Molecular Pathology and Cancer Therapeutics
University of Melbourne
The Netherlands Cancer Institute
Leiden University Medical Center
McGill University
Comprehensive Cancer Center Erlangen-EMN
University of Erlangen-Nuremberg
London School of Hygiene and Tropical Medicine
Guy's Hospital
Wellcome Trust Centre for Human Genetics
Galway University Hospital
National Cancer Institute (NCI)
M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology
Harvard School of Public Health
Cell Division and Cancer Group
Hospital Monte Naranco
Ruprecht-Karls-University Heidelberg
German Cancer Research Center
Technical University Munich
University Hospital Cologne
Heidelberg University
Johanniter Krankenhaus
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance
Ulm University
Hannover Medical School
Karolinska Institutet
University of Eastern Finland
Kuopio University Hospital
QIMR Berghofer Medical Research Institute
Fondazione IRCCS Istituto Nazionale dei Tumori, Milan
Department of Experimental Oncology
Cancer Council Victoria
Alfred Hospital
Cancer Prevention Institute of California
Dana-Farber Cancer Institute
University of Oulu
University of Sheffield
Mount Sinai Hospital, Ontario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute
Mt Sinai Hospital
University of Toronto Faculty of Medicine
University of Toronto
Keenan Research Centre for Biomedical Science
University of Manchester
University of Cambridge
Seoul National University College of Medicine
National Cancer Institute of Thailand
Intl. Agency for Research on Cancer
University of California

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

4 Citations (Scopus)

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
Pages (from-to)	1934-1939
Number of pages	6
Journal	British Journal of Cancer
Volume	105
Issue number	12
DOIs	https://doi.org/10.13025/27606 https://doi.org/10.1038/bjc.2011.448
Publication status	Published - 6 Dec 2011
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Association study
Genetic susceptibility
Neoplasms

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10.13025/27606Licence: CC BY-NC-ND
10.1038/bjc.2011.448

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/10.13025/27606, https://doi.org/10.1038/bjc.2011.448

@article{96f5a14af6c541c1ac99fd980674b77e,

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 {\textquoteleft}T Veer\}, \{L J\} and Tollenaar, \{Robert 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\}, Isabel 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 Javier 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 Thomas 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 Michael 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 V.-M. Kosma and J Hartikainen and G. Chenevix-Trench and X Chen and P. Peterlongo and B. Bonanni and Loris 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 Gianluca Severi and John, \{E. M.\} and A. Miron and R. Winqvist and K. Pylk{\"a}s and Arja 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 Graeme 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 K.-Y. Yoo and D.-Y. Noh and S. Sangrajrang and V Gabrieau and Paul Brennan and James McKay and H. Anton-Culver and A. Ziogas and Couch, \{F. J.\} and Easton, \{D. F.\}",

year = "2011",

month = dec,

day = "6",

doi = "10.13025/27606",

language = "English",

volume = "105",

pages = "1934--1939",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Springer Nature",

number = "12",

}

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, V-M, 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, K-Y, Noh, D-Y, 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/10.13025/27606, https://doi.org/10.1038/bjc.2011.448

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, Robert 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, Isabel

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, Javier

AU - Burwinkel, B.

AU - Meindl, A.

AU - Schmutzler, R. K.

AU - Bartrar, C R

AU - Hamann, U.

AU - Ko, Y D

AU - Brüning, Thomas

AU - Chang-Claude, J.

AU - Hein, R.

AU - Wang-Gohrke, S.

AU - Dörk, T.

AU - Schürmann, P.

AU - Bremer, Michael

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, Loris

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, Gianluca

AU - John, E. M.

AU - Miron, A.

AU - Winqvist, R.

AU - Pylkäs, K.

AU - Jukkola-Vuorinen, Arja

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, Graeme

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, Paul

AU - McKay, James

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://hdl.handle.net/10379/14019

UR - https://www.scopus.com/pages/publications/84856024444

U2 - 10.13025/27606

DO - 10.13025/27606

M3 - Article

SN - 0007-0920

VL - 105

SP - 1934

EP - 1939

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 12

ER -

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

Abstract

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Keywords

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