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Common germline polymorphisms associated with breast cancer-specific survival
INTRODUCTION: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-sp...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484708/ https://www.ncbi.nlm.nih.gov/pubmed/25897948 http://dx.doi.org/10.1186/s13058-015-0570-7 |
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author | Pirie, Ailith Guo, Qi Kraft, Peter Canisius, Sander Eccles, Diana M Rahman, Nazneen Nevanlinna, Heli Chen, Constance Khan, Sofia Tyrer, Jonathan Bolla, Manjeet K Wang, Qin Dennis, Joe Michailidou, Kyriaki Lush, Michael Dunning, Alison M Shah, Mitul Czene, Kamila Darabi, Hatef Eriksson, Mikael Lambrechts, Dieter Weltens, Caroline Leunen, Karin van Ongeval, Chantal Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Rudolph, Anja Seibold, Petra Flesch-Janys, Dieter Blomqvist, Carl Aittomäki, Kristiina Fagerholm, Rainer Muranen, Taru A Olsen, Janet E Hallberg, Emily Vachon, Celine Knight, Julia A Glendon, Gord Mulligan, Anna Marie Broeks, Annegien Cornelissen, Sten Haiman, Christopher A Henderson, Brian E Schumacher, Frederick Le Marchand, Loic Hopper, John L Tsimiklis, Helen Apicella, Carmel Southey, Melissa C Cross, Simon S Reed, Malcolm WR Giles, Graham G Milne, Roger L McLean, Catriona Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Grip, Mervi Hooning, Maartje J Hollestelle, Antoinette Martens, John WM van den Ouweland, Ans MW Marme, Federick Schneeweiss, Andreas Yang, Rongxi Burwinkel, Barbara Figueroa, Jonine Chanock, Stephen J Lissowska, Jolanta Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Brenner, Hermann Butterbach, Katja Holleczek, Bernd Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Li, Jingmei Brand, Judith S Humphreys, Keith Devilee, Peter Tollenaar, Robert AEM Seynaeve, Caroline Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Ficarazzi, Filomena Beckmann, Matthias W Hein, Alexander Ekici, Arif B Balleine, Rosemary Phillips, Kelly-Anne Benitez, Javier Zamora, M Pilar Perez, Jose Ignacio Arias Menéndez, Primitiva Jakubowska, Anna Lubinski, Jan Gronwald, Jacek Durda, Katarzyna Hamann, Ute Kabisch, Maria Ulmer, Hans Ulrich Rüdiger, Thomas Margolin, Sara Kristensen, Vessela Nord, Siljie Evans, D Gareth Abraham, Jean Earl, Helena Poole, Christopher J Hiller, Louise Dunn, Janet A Bowden, Sarah Yang, Rose Campa, Daniele Diver, W Ryan Gapstur, Susan M Gaudet, Mia M Hankinson, Susan Hoover, Robert N Hüsing, Anika Kaaks, Rudolf Machiela, Mitchell J Willett, Walter Barrdahl, Myrto Canzian, Federico Chin, Suet-Feung Caldas, Carlos Hunter, David J Lindstrom, Sara Garcia-Closas, Montserrat Couch, Fergus J Chenevix-Trench, Georgia Mannermaa, Arto Andrulis, Irene L Hall, Per Chang-Claude, Jenny Easton, Douglas F Bojesen, Stig E Cox, Angela Fasching, Peter A Pharoah, Paul DP Schmidt, Marjanka K |
author_facet | Pirie, Ailith Guo, Qi Kraft, Peter Canisius, Sander Eccles, Diana M Rahman, Nazneen Nevanlinna, Heli Chen, Constance Khan, Sofia Tyrer, Jonathan Bolla, Manjeet K Wang, Qin Dennis, Joe Michailidou, Kyriaki Lush, Michael Dunning, Alison M Shah, Mitul Czene, Kamila Darabi, Hatef Eriksson, Mikael Lambrechts, Dieter Weltens, Caroline Leunen, Karin van Ongeval, Chantal Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Rudolph, Anja Seibold, Petra Flesch-Janys, Dieter Blomqvist, Carl Aittomäki, Kristiina Fagerholm, Rainer Muranen, Taru A Olsen, Janet E Hallberg, Emily Vachon, Celine Knight, Julia A Glendon, Gord Mulligan, Anna Marie Broeks, Annegien Cornelissen, Sten Haiman, Christopher A Henderson, Brian E Schumacher, Frederick Le Marchand, Loic Hopper, John L Tsimiklis, Helen Apicella, Carmel Southey, Melissa C Cross, Simon S Reed, Malcolm WR Giles, Graham G Milne, Roger L McLean, Catriona Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Grip, Mervi Hooning, Maartje J Hollestelle, Antoinette Martens, John WM van den Ouweland, Ans MW Marme, Federick Schneeweiss, Andreas Yang, Rongxi Burwinkel, Barbara Figueroa, Jonine Chanock, Stephen J Lissowska, Jolanta Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Brenner, Hermann Butterbach, Katja Holleczek, Bernd Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Li, Jingmei Brand, Judith S Humphreys, Keith Devilee, Peter Tollenaar, Robert AEM Seynaeve, Caroline Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Ficarazzi, Filomena Beckmann, Matthias W Hein, Alexander Ekici, Arif B Balleine, Rosemary Phillips, Kelly-Anne Benitez, Javier Zamora, M Pilar Perez, Jose Ignacio Arias Menéndez, Primitiva Jakubowska, Anna Lubinski, Jan Gronwald, Jacek Durda, Katarzyna Hamann, Ute Kabisch, Maria Ulmer, Hans Ulrich Rüdiger, Thomas Margolin, Sara Kristensen, Vessela Nord, Siljie Evans, D Gareth Abraham, Jean Earl, Helena Poole, Christopher J Hiller, Louise Dunn, Janet A Bowden, Sarah Yang, Rose Campa, Daniele Diver, W Ryan Gapstur, Susan M Gaudet, Mia M Hankinson, Susan Hoover, Robert N Hüsing, Anika Kaaks, Rudolf Machiela, Mitchell J Willett, Walter Barrdahl, Myrto Canzian, Federico Chin, Suet-Feung Caldas, Carlos Hunter, David J Lindstrom, Sara Garcia-Closas, Montserrat Couch, Fergus J Chenevix-Trench, Georgia Mannermaa, Arto Andrulis, Irene L Hall, Per Chang-Claude, Jenny Easton, Douglas F Bojesen, Stig E Cox, Angela Fasching, Peter A Pharoah, Paul DP Schmidt, Marjanka K |
author_sort | Pirie, Ailith |
collection | PubMed |
description | INTRODUCTION: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. METHODS: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. RESULTS: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. CONCLUSIONS: Although no variants reached genome-wide significance (P <5 x 10(−8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13058-015-0570-7) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4484708 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-44847082015-06-30 Common germline polymorphisms associated with breast cancer-specific survival Pirie, Ailith Guo, Qi Kraft, Peter Canisius, Sander Eccles, Diana M Rahman, Nazneen Nevanlinna, Heli Chen, Constance Khan, Sofia Tyrer, Jonathan Bolla, Manjeet K Wang, Qin Dennis, Joe Michailidou, Kyriaki Lush, Michael Dunning, Alison M Shah, Mitul Czene, Kamila Darabi, Hatef Eriksson, Mikael Lambrechts, Dieter Weltens, Caroline Leunen, Karin van Ongeval, Chantal Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Rudolph, Anja Seibold, Petra Flesch-Janys, Dieter Blomqvist, Carl Aittomäki, Kristiina Fagerholm, Rainer Muranen, Taru A Olsen, Janet E Hallberg, Emily Vachon, Celine Knight, Julia A Glendon, Gord Mulligan, Anna Marie Broeks, Annegien Cornelissen, Sten Haiman, Christopher A Henderson, Brian E Schumacher, Frederick Le Marchand, Loic Hopper, John L Tsimiklis, Helen Apicella, Carmel Southey, Melissa C Cross, Simon S Reed, Malcolm WR Giles, Graham G Milne, Roger L McLean, Catriona Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Grip, Mervi Hooning, Maartje J Hollestelle, Antoinette Martens, John WM van den Ouweland, Ans MW Marme, Federick Schneeweiss, Andreas Yang, Rongxi Burwinkel, Barbara Figueroa, Jonine Chanock, Stephen J Lissowska, Jolanta Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Brenner, Hermann Butterbach, Katja Holleczek, Bernd Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Li, Jingmei Brand, Judith S Humphreys, Keith Devilee, Peter Tollenaar, Robert AEM Seynaeve, Caroline Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Ficarazzi, Filomena Beckmann, Matthias W Hein, Alexander Ekici, Arif B Balleine, Rosemary Phillips, Kelly-Anne Benitez, Javier Zamora, M Pilar Perez, Jose Ignacio Arias Menéndez, Primitiva Jakubowska, Anna Lubinski, Jan Gronwald, Jacek Durda, Katarzyna Hamann, Ute Kabisch, Maria Ulmer, Hans Ulrich Rüdiger, Thomas Margolin, Sara Kristensen, Vessela Nord, Siljie Evans, D Gareth Abraham, Jean Earl, Helena Poole, Christopher J Hiller, Louise Dunn, Janet A Bowden, Sarah Yang, Rose Campa, Daniele Diver, W Ryan Gapstur, Susan M Gaudet, Mia M Hankinson, Susan Hoover, Robert N Hüsing, Anika Kaaks, Rudolf Machiela, Mitchell J Willett, Walter Barrdahl, Myrto Canzian, Federico Chin, Suet-Feung Caldas, Carlos Hunter, David J Lindstrom, Sara Garcia-Closas, Montserrat Couch, Fergus J Chenevix-Trench, Georgia Mannermaa, Arto Andrulis, Irene L Hall, Per Chang-Claude, Jenny Easton, Douglas F Bojesen, Stig E Cox, Angela Fasching, Peter A Pharoah, Paul DP Schmidt, Marjanka K Breast Cancer Res Research Article INTRODUCTION: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. METHODS: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. RESULTS: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. CONCLUSIONS: Although no variants reached genome-wide significance (P <5 x 10(−8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13058-015-0570-7) contains supplementary material, which is available to authorized users. BioMed Central 2015-04-22 2015 /pmc/articles/PMC4484708/ /pubmed/25897948 http://dx.doi.org/10.1186/s13058-015-0570-7 Text en © Pirie et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Pirie, Ailith Guo, Qi Kraft, Peter Canisius, Sander Eccles, Diana M Rahman, Nazneen Nevanlinna, Heli Chen, Constance Khan, Sofia Tyrer, Jonathan Bolla, Manjeet K Wang, Qin Dennis, Joe Michailidou, Kyriaki Lush, Michael Dunning, Alison M Shah, Mitul Czene, Kamila Darabi, Hatef Eriksson, Mikael Lambrechts, Dieter Weltens, Caroline Leunen, Karin van Ongeval, Chantal Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Rudolph, Anja Seibold, Petra Flesch-Janys, Dieter Blomqvist, Carl Aittomäki, Kristiina Fagerholm, Rainer Muranen, Taru A Olsen, Janet E Hallberg, Emily Vachon, Celine Knight, Julia A Glendon, Gord Mulligan, Anna Marie Broeks, Annegien Cornelissen, Sten Haiman, Christopher A Henderson, Brian E Schumacher, Frederick Le Marchand, Loic Hopper, John L Tsimiklis, Helen Apicella, Carmel Southey, Melissa C Cross, Simon S Reed, Malcolm WR Giles, Graham G Milne, Roger L McLean, Catriona Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Grip, Mervi Hooning, Maartje J Hollestelle, Antoinette Martens, John WM van den Ouweland, Ans MW Marme, Federick Schneeweiss, Andreas Yang, Rongxi Burwinkel, Barbara Figueroa, Jonine Chanock, Stephen J Lissowska, Jolanta Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Brenner, Hermann Butterbach, Katja Holleczek, Bernd Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Li, Jingmei Brand, Judith S Humphreys, Keith Devilee, Peter Tollenaar, Robert AEM Seynaeve, Caroline Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Ficarazzi, Filomena Beckmann, Matthias W Hein, Alexander Ekici, Arif B Balleine, Rosemary Phillips, Kelly-Anne Benitez, Javier Zamora, M Pilar Perez, Jose Ignacio Arias Menéndez, Primitiva Jakubowska, Anna Lubinski, Jan Gronwald, Jacek Durda, Katarzyna Hamann, Ute Kabisch, Maria Ulmer, Hans Ulrich Rüdiger, Thomas Margolin, Sara Kristensen, Vessela Nord, Siljie Evans, D Gareth Abraham, Jean Earl, Helena Poole, Christopher J Hiller, Louise Dunn, Janet A Bowden, Sarah Yang, Rose Campa, Daniele Diver, W Ryan Gapstur, Susan M Gaudet, Mia M Hankinson, Susan Hoover, Robert N Hüsing, Anika Kaaks, Rudolf Machiela, Mitchell J Willett, Walter Barrdahl, Myrto Canzian, Federico Chin, Suet-Feung Caldas, Carlos Hunter, David J Lindstrom, Sara Garcia-Closas, Montserrat Couch, Fergus J Chenevix-Trench, Georgia Mannermaa, Arto Andrulis, Irene L Hall, Per Chang-Claude, Jenny Easton, Douglas F Bojesen, Stig E Cox, Angela Fasching, Peter A Pharoah, Paul DP Schmidt, Marjanka K Common germline polymorphisms associated with breast cancer-specific survival |
title | Common germline polymorphisms associated with breast cancer-specific survival |
title_full | Common germline polymorphisms associated with breast cancer-specific survival |
title_fullStr | Common germline polymorphisms associated with breast cancer-specific survival |
title_full_unstemmed | Common germline polymorphisms associated with breast cancer-specific survival |
title_short | Common germline polymorphisms associated with breast cancer-specific survival |
title_sort | common germline polymorphisms associated with breast cancer-specific survival |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484708/ https://www.ncbi.nlm.nih.gov/pubmed/25897948 http://dx.doi.org/10.1186/s13058-015-0570-7 |
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commongermlinepolymorphismsassociatedwithbreastcancerspecificsurvival AT coxangela commongermlinepolymorphismsassociatedwithbreastcancerspecificsurvival AT faschingpetera commongermlinepolymorphismsassociatedwithbreastcancerspecificsurvival AT pharoahpauldp commongermlinepolymorphismsassociatedwithbreastcancerspecificsurvival AT schmidtmarjankak commongermlinepolymorphismsassociatedwithbreastcancerspecificsurvival |