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

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 t...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251877/
https://www.ncbi.nlm.nih.gov/pubmed/22033276
http://dx.doi.org/10.1038/bjc.2011.448
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author 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
author_facet 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
author_sort Stevens, K N
collection PubMed
description 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
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spelling pubmed-32518772012-12-06 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 Br J Cancer Genetics and Genomics 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 Nature Publishing Group 2011-12-06 2011-10-27 /pmc/articles/PMC3251877/ /pubmed/22033276 http://dx.doi.org/10.1038/bjc.2011.448 Text en Copyright © 2011 Cancer Research UK https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Genetics and Genomics
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
title Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
title_full Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
title_fullStr Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
title_full_unstemmed Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
title_short Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
title_sort evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
topic Genetics and Genomics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251877/
https://www.ncbi.nlm.nih.gov/pubmed/22033276
http://dx.doi.org/10.1038/bjc.2011.448
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AT gabrieauv evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT brennanp evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT mckayj evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT antonculverh evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT ziogasa evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT couchfj evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT eastondf evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk
AT evaluationofvariationinthephosphoinositide3kinasecatalyticsubunitalphaoncogeneandbreastcancerrisk