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

K. N. Stevens; Montserrat Garcia-Closas; Zachary Fredericksen; Matthew Kosel; V. Shane Pankratz; J. L. Hopper; Gillian S Dite; Carmel Apicella; M. C. Southey; M. K. Schmidt; Annegien Broeks; Laura J Van 't Veer; R A E M Tollenaar; Peter A. Fasching; Matthias W. Beckmann; Alexander Hein; Arif B Ekici; N. Johnson; Julian Peto; I. Dos Santos Silva; John L Gibson; Edward Sawyer; Ian P Tomlinson; Michael J. Kerin; Stephen J Chanock; Jolanta Lissowska; D. J. Hunter; Robert N Hoover; G. D. Thomas; R. L. Milne; Ji Arias Pérez; A. González-Neira; J. Benítez; Barbara Burwinkel; Alfons Meindl; Rita K. Schmutzler; C. R. Bartrar; Ute Hamann; Yon-Dschun Ko; T. Brüning; Jenny Chang-Claude; R. Hein; Shan Wang-Gohrke; Dörk Thilo Dörk; Peter Schürmann; Michael Bremer; Peter Hillemanns; Natalia Bogdanova; J. V. Zalutsky; Yuri I. Rogov; Natalia Antonenkova; Annika Lindblom; Sara Margolin; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Juha Hartikainen; Georgia Chenevix-Trench; X. Chen; Paolo Peterlongo; Bernardo Bonanni; Laetitia Bernard; Siranoush Manoukian; X. Wang; James R. Cerhan; Celine M Vachon; Janet E Olson; G. G. Giles; Laura Baglietto; C. A. McLean; Gianluca Severi; Esther M. John; Alexander Miron; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Irene L Andrulis; J. A. Knight; Grodon Glendon; Anna M.arie Mulligan; A. Cox; Ian W. Brock; Thomas G Elliott; S. S. Cross; Paul D P Pharoah; A. M. Dunning; Karen A Pooley; M. K. Humphreys; J. Wang; Deying Kang; Keun-Young Yoo; Dong-Young Noh; Suleeporn Sangrajrang; V. Gabrieau; P Brennan; J. McKay; Hoda Anton-Culver; A K Ziogas; Fergus J Couch; Doug 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, Montserrat Garcia-Closas, Zachary Fredericksen, Matthew Kosel, V. Shane Pankratz, J. L. Hopper, Gillian S Dite, Carmel Apicella, M. C. Southey, M. K. Schmidt, Annegien Broeks, Laura J Van 't Veer, R A E M Tollenaar, Peter A. Fasching, Matthias W. Beckmann, Alexander Hein, Arif B Ekici, N. Johnson, Julian Peto, I. Dos Santos SilvaJohn L Gibson, Edward Sawyer, Ian P Tomlinson, Michael J. Kerin, Stephen J Chanock, Jolanta Lissowska, D. J. Hunter, Robert N Hoover, G. D. Thomas, R. L. Milne, Ji Arias Pérez, A. González-Neira, J. Benítez, Barbara Burwinkel, Alfons Meindl, Rita K. Schmutzler, C. R. Bartrar, Ute Hamann, Yon-Dschun Ko, T. Brüning, Jenny Chang-Claude, R. Hein, Shan Wang-Gohrke, Dörk Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia Bogdanova, J. V. Zalutsky, Yuri I. Rogov, Natalia Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Juha Hartikainen, Georgia Chenevix-Trench, X. Chen, Paolo Peterlongo, Bernardo Bonanni, Laetitia Bernard, Siranoush Manoukian, X. Wang, James R. Cerhan, Celine M Vachon, Janet E Olson, G. G. Giles, Laura Baglietto, C. A. McLean, Gianluca Severi, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Irene L Andrulis, J. A. Knight, Grodon Glendon, Anna M.arie Mulligan, A. Cox, Ian W. Brock, Thomas G Elliott, S. S. Cross, Paul D P Pharoah, A. M. Dunning, Karen A Pooley, M. K. Humphreys, J. Wang, Deying Kang, Keun-Young Yoo, Dong-Young Noh, Suleeporn Sangrajrang, V. Gabrieau, P Brennan, J. McKay, Hoda Anton-Culver, A K Ziogas, Fergus J Couch, Doug F. Easton

Research output: Contribution to journal › Article › Research › peer-review

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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/10.1038/bjc.2011.448
Publication status	Published - 6 Dec 2011
Externally published	Yes

Keywords

Association study
Genetic susceptibility
Neoplasms

UN SDGs

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

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10.1038/bjc.2011.448

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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

@article{27d0f8efe4db4cf2b03c2cde18ac6df6,

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 Montserrat Garcia-Closas and Zachary Fredericksen and Matthew Kosel and Pankratz, {V. Shane} and Hopper, {J. L.} and Dite, {Gillian S} and Carmel Apicella and Southey, {M. C.} and Schmidt, {M. K.} and Annegien Broeks and {Van 't Veer}, {Laura J} and Tollenaar, {R A E M} and Fasching, {Peter A.} and Beckmann, {Matthias W.} and Alexander Hein and Ekici, {Arif B} and N. Johnson and Julian Peto and {Dos Santos Silva}, I. and Gibson, {John L} and Edward Sawyer and Tomlinson, {Ian P} and Kerin, {Michael J.} and Chanock, {Stephen J} and Jolanta Lissowska and Hunter, {D. J.} and Hoover, {Robert 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 Barbara Burwinkel and Alfons Meindl and Schmutzler, {Rita K.} and Bartrar, {C. R.} and Ute Hamann and Yon-Dschun Ko and T. Br{\"u}ning and Jenny Chang-Claude and R. Hein and Shan Wang-Gohrke and {Thilo D{\"o}rk}, D{\"o}rk and Peter Sch{\"u}rmann and Michael Bremer and Peter Hillemanns and Natalia Bogdanova and Zalutsky, {J. V.} and Rogov, {Yuri I.} and Natalia Antonenkova and Annika Lindblom and Sara Margolin and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Juha Hartikainen and Georgia Chenevix-Trench and X. Chen and Paolo Peterlongo and Bernardo Bonanni and Laetitia Bernard and Siranoush Manoukian and X. Wang and Cerhan, {James R.} and Vachon, {Celine M} and Olson, {Janet E} and Giles, {G. G.} and Laura Baglietto and McLean, {C. A.} and Gianluca Severi and John, {Esther M.} and Alexander Miron and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Andrulis, {Irene L} and Knight, {J. A.} and Grodon Glendon and Mulligan, {Anna M.arie} and A. Cox and Brock, {Ian W.} and Elliott, {Thomas G} and Cross, {S. S.} and Pharoah, {Paul D P} and Dunning, {A. M.} and Pooley, {Karen A} and Humphreys, {M. K.} and J. Wang and Deying Kang and Keun-Young Yoo and Dong-Young Noh and Suleeporn Sangrajrang and V. Gabrieau and P Brennan and J. McKay and Hoda Anton-Culver and Ziogas, {A K} and Couch, {Fergus J} and Easton, {Doug F.}",

year = "2011",

month = dec,

day = "6",

doi = "10.1038/bjc.2011.448",

language = "English",

volume = "105",

pages = "1934--1939",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Nature Publishing Group",

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, JL, Sawyer, E, Tomlinson, IP, Kerin, MJ, Chanock, SJ, 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, Y-D, Brüning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Thilo Dörk, D, 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, JR, Vachon, CM, Olson, JE, Giles, GG, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AMA, Cox, A, Brock, IW, Elliott, TG, Cross, SS, Pharoah, PDP, 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, AK, 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

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, Montserrat

AU - Fredericksen, Zachary

AU - Kosel, Matthew

AU - Pankratz, V. Shane

AU - Hopper, J. L.

AU - Dite, Gillian S

AU - Apicella, Carmel

AU - Southey, M. C.

AU - Schmidt, M. K.

AU - Broeks, Annegien

AU - Van 't Veer, Laura J

AU - Tollenaar, R A E M

AU - Fasching, Peter A.

AU - Beckmann, Matthias W.

AU - Hein, Alexander

AU - Ekici, Arif B

AU - Johnson, N.

AU - Peto, Julian

AU - Dos Santos Silva, I.

AU - Gibson, John L

AU - Sawyer, Edward

AU - Tomlinson, Ian P

AU - Kerin, Michael J.

AU - Chanock, Stephen J

AU - Lissowska, Jolanta

AU - Hunter, D. J.

AU - Hoover, Robert N

AU - Thomas, G. D.

AU - Milne, R. L.

AU - Pérez, Ji Arias

AU - González-Neira, A.

AU - Benítez, J.

AU - Burwinkel, Barbara

AU - Meindl, Alfons

AU - Schmutzler, Rita K.

AU - Bartrar, C. R.

AU - Hamann, Ute

AU - Ko, Yon-Dschun

AU - Brüning, T.

AU - Chang-Claude, Jenny

AU - Hein, R.

AU - Wang-Gohrke, Shan

AU - Thilo Dörk, Dörk

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Bogdanova, Natalia

AU - Zalutsky, J. V.

AU - Rogov, Yuri I.

AU - Antonenkova, Natalia

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Juha

AU - Chenevix-Trench, Georgia

AU - Chen, X.

AU - Peterlongo, Paolo

AU - Bonanni, Bernardo

AU - Bernard, Laetitia

AU - Manoukian, Siranoush

AU - Wang, X.

AU - Cerhan, James R.

AU - Vachon, Celine M

AU - Olson, Janet E

AU - Giles, G. G.

AU - Baglietto, Laura

AU - McLean, C. A.

AU - Severi, Gianluca

AU - John, Esther M.

AU - Miron, Alexander

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Grip, Mervi

AU - Andrulis, Irene L

AU - Knight, J. A.

AU - Glendon, Grodon

AU - Mulligan, Anna M.arie

AU - Cox, A.

AU - Brock, Ian W.

AU - Elliott, Thomas G

AU - Cross, S. S.

AU - Pharoah, Paul D P

AU - Dunning, A. M.

AU - Pooley, Karen A

AU - Humphreys, M. K.

AU - Wang, J.

AU - Kang, Deying

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Sangrajrang, Suleeporn

AU - Gabrieau, V.

AU - Brennan, P

AU - McKay, J.

AU - Anton-Culver, Hoda

AU - Ziogas, A K

AU - Couch, Fergus J

AU - Easton, Doug 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

U2 - 10.1038/bjc.2011.448

DO - 10.1038/bjc.2011.448

M3 - Article

C2 - 22033276

AN - SCOPUS:84856024444

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

Keywords

UN SDGs

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