Common germline polymorphisms associated with breast cancer-specific survival

Ailith Pirie; Qi Guo; Peter Kraft; Sander Canisius; Diana M Eccles; Nazneen Rahman; Heli Nevanlinna; Constance Chen; Sofia Khan; Jonathan Tyrer; Manjeet K Bolla; Qin Wang; Joe Dennis; Kyriaki Michailidou; Michael Lush; Alison M Dunning; Mitul Shah; Kamila Czene; Hatef Darabi; Mikael Eriksson; Dieter Lambrechts; Caroline Weltens; Karin Leunen; Chantal van Ongeval; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Anja Rudolph; Petra Seibold; Dieter Flesch-Janys; Carl Blomqvist; Kristiina Aittomäki; Rainer Fagerholm; Taru A Muranen; Janet E Olsen; Emily Hallberg; Celine Vachon; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Annegien Broeks; Sten Cornelissen; Christopher A Haiman; Brian E Henderson; Frederick Schumacher; Loic Le Marchand; John L Hopper; Helen Tsimiklis; Carmel Apicella; Stig E Bojesen; kConFab Investigators

doi:10.1186/s13058-015-0570-7

Common germline polymorphisms associated with breast cancer-specific survival

Ailith Pirie, Qi Guo, Peter Kraft, Sander Canisius, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael ErikssonDieter Lambrechts, Caroline Weltens, Karin Leunen, Chantal van Ongeval, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Carl Blomqvist, Kristiina Aittomäki, Rainer Fagerholm, Taru A Muranen, Janet E Olsen, Emily Hallberg, Celine Vachon, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Annegien Broeks, Sten Cornelissen, Christopher A Haiman, Brian E Henderson, Frederick Schumacher, Loic Le Marchand, John L Hopper, Helen Tsimiklis, Carmel Apicella, Stig E Bojesen, kConFab Investigators

21 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Artikelnummer	58
Tidsskrift	Breast cancer research : BCR
Vol/bind	17
Sider (fra-til)	1-11
Antal sider	11
ISSN	1465-5411
DOI	https://doi.org/10.1186/s13058-015-0570-7
Status	Udgivet - 22 apr. 2015

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10.1186/s13058-015-0570-7Licens: CC BY

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Pirie, A., Guo, Q., Kraft, P., Canisius, S., Eccles, D. M., Rahman, N., Nevanlinna, H., Chen, C., Khan, S., Tyrer, J., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Dunning, A. M., Shah, M., Czene, K., Darabi, H., ... kConFab Investigators (2015). Common germline polymorphisms associated with breast cancer-specific survival. Breast cancer research : BCR, 17, 1-11. [58]. https://doi.org/10.1186/s13058-015-0570-7

Pirie, A, Guo, Q, Kraft, P, Canisius, S, Eccles, DM, Rahman, N, Nevanlinna, H, Chen, C, Khan, S, Tyrer, J, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Lush, M, Dunning, AM, Shah, M, Czene, K, Darabi, H, Eriksson, M, Lambrechts, D, Weltens, C, Leunen, K, van Ongeval, C, Nordestgaard, BG, Nielsen, SF, Flyger, H, Rudolph, A, Seibold, P, Flesch-Janys, D, Blomqvist, C, Aittomäki, K, Fagerholm, R, Muranen, TA, Olsen, JE, Hallberg, E, Vachon, C, Knight, JA, Glendon, G, Mulligan, AM, Broeks, A, Cornelissen, S, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Hopper, JL, Tsimiklis, H, Apicella, C, Bojesen, SE & kConFab Investigators 2015, 'Common germline polymorphisms associated with breast cancer-specific survival', Breast cancer research : BCR, bind 17, 58, s. 1-11. https://doi.org/10.1186/s13058-015-0570-7

@article{aaa5de6b82a54115824640231b65e8aa,

title = "Common germline polymorphisms associated with breast cancer-specific survival",

abstract = "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.",

author = "Ailith Pirie and Qi Guo and Peter Kraft and Sander Canisius and Eccles, {Diana M} and Nazneen Rahman and Heli Nevanlinna and Constance Chen and Sofia Khan and Jonathan Tyrer and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Kyriaki Michailidou and Michael Lush and Dunning, {Alison M} and Mitul Shah and Kamila Czene and Hatef Darabi and Mikael Eriksson and Dieter Lambrechts and Caroline Weltens and Karin Leunen and {van Ongeval}, Chantal and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Anja Rudolph and Petra Seibold and Dieter Flesch-Janys and Carl Blomqvist and Kristiina Aittom{\"a}ki and Rainer Fagerholm and Muranen, {Taru A} and Olsen, {Janet E} and Emily Hallberg and Celine Vachon and Knight, {Julia A} and Gord Glendon and Mulligan, {Anna Marie} and Annegien Broeks and Sten Cornelissen and Haiman, {Christopher A} and Henderson, {Brian E} and Frederick Schumacher and {Le Marchand}, Loic and Hopper, {John L} and Helen Tsimiklis and Carmel Apicella and Bojesen, {Stig E} and {kConFab Investigators}",

year = "2015",

month = apr,

day = "22",

doi = "10.1186/s13058-015-0570-7",

language = "English",

volume = "17",

pages = "1--11",

journal = "Breast Cancer Research",

issn = "1465-5411",

publisher = "BioMed Central Ltd.",

}

TY - JOUR

T1 - Common germline polymorphisms associated with breast cancer-specific survival

AU - Pirie, Ailith

AU - Guo, Qi

AU - Kraft, Peter

AU - Canisius, Sander

AU - Eccles, Diana M

AU - Rahman, Nazneen

AU - Nevanlinna, Heli

AU - Chen, Constance

AU - Khan, Sofia

AU - Tyrer, Jonathan

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - Lush, Michael

AU - Dunning, Alison M

AU - Shah, Mitul

AU - Czene, Kamila

AU - Darabi, Hatef

AU - Eriksson, Mikael

AU - Lambrechts, Dieter

AU - Weltens, Caroline

AU - Leunen, Karin

AU - van Ongeval, Chantal

AU - Nordestgaard, Børge G

AU - Nielsen, Sune F

AU - Flyger, Henrik

AU - Rudolph, Anja

AU - Seibold, Petra

AU - Flesch-Janys, Dieter

AU - Blomqvist, Carl

AU - Aittomäki, Kristiina

AU - Fagerholm, Rainer

AU - Muranen, Taru A

AU - Olsen, Janet E

AU - Hallberg, Emily

AU - Vachon, Celine

AU - Knight, Julia A

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Broeks, Annegien

AU - Cornelissen, Sten

AU - Haiman, Christopher A

AU - Henderson, Brian E

AU - Schumacher, Frederick

AU - Le Marchand, Loic

AU - Hopper, John L

AU - Tsimiklis, Helen

AU - Apicella, Carmel

AU - Bojesen, Stig E

AU - kConFab Investigators

PY - 2015/4/22

Y1 - 2015/4/22

N2 - 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.

AB - 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.

U2 - 10.1186/s13058-015-0570-7

DO - 10.1186/s13058-015-0570-7

M3 - Journal article

C2 - 25897948

SN - 1465-5411

VL - 17

SP - 1

EP - 11

JO - Breast Cancer Research

JF - Breast Cancer Research

M1 - 58

ER -

Common germline polymorphisms associated with breast cancer-specific survival

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