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Common germline polymorphisms associated with breast cancer-specific survival
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(2015) Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Research, 17 (1). 58. doi:10.1186/s13058-015-0570-7 ISSN 1465-542X.
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Official URL: http://dx.doi.org/10.1186/s13058-015-0570-7
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.
Item Type: | Journal Article | ||||||
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Subjects: | R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) | ||||||
Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School | ||||||
Library of Congress Subject Headings (LCSH): | Breast -- Cancer -- Treatment, Breast -- Cancer -- Genetic apsects, Single nucleotide polymorphisms , Systematic reviews (Medical research) | ||||||
Journal or Publication Title: | Breast Cancer Research | ||||||
Publisher: | BioMed Central Ltd. | ||||||
ISSN: | 1465-542X | ||||||
Official Date: | 22 April 2015 | ||||||
Dates: |
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Volume: | 17 | ||||||
Number: | 1 | ||||||
Article Number: | 58 | ||||||
DOI: | 10.1186/s13058-015-0570-7 | ||||||
Status: | Peer Reviewed | ||||||
Publication Status: | Published | ||||||
Access rights to Published version: | Open Access (Creative Commons) | ||||||
Date of first compliant deposit: | 27 January 2017 | ||||||
Date of first compliant Open Access: | 27 January 2017 | ||||||
Funder: | Seventh Framework Programme (European Commission) (FP7), Cancer Research UK (CRUK), European Union (EU) | ||||||
Grant number: | 223175-HEALTH-F2-2009-223175 (FP7), C1287/A10118 and C1287/A12014 (CRUK), COST programme BM0606 (EU), |
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