eprintid: 19364
rev_number: 41
eprint_status: archive
userid: 1589
dir: disk0/00/01/93/64
datestamp: 2015-12-02 08:42:10
lastmod: 2024-03-30 20:03:13
status_changed: 2015-12-02 08:42:10
type: article
metadata_visibility: show
creators_name: Pirie, Ailith
creators_name:  Marmé, Frederick
creators_name: Schneeweiss, Andreas
creators_name: Yang, Rongxi
creators_name: Burwinkel, Barbara
creators_name: Brenner, Hermann
title: Common germline polymorphisms associated with breast cancer-specific survival
subjects: ddc-610
divisions: i-851600
divisions: i-910400
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.  
date: 2015
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1653541709
own_urn: urn:nbn:de:bsz:16-heidok-193649
language: eng
bibsort: PIRIEAILITCOMMONGERM2015
full_text_status: public
publication: Breast cancer research
volume: 17
number: 58
place_of_pub: London
pagerange: 1-11
issn: 1465-542X
citation:   Pirie, Ailith ;  Marmé, Frederick ; Schneeweiss, Andreas ; Yang, Rongxi ; Burwinkel, Barbara ; Brenner, Hermann  (2015) Common germline polymorphisms associated with breast cancer-specific survival.  Breast cancer research, 17 (58).  pp. 1-11.  ISSN 1465-542X     
document_url: http://archiv.ub.uni-heidelberg.de/volltextserver/19364/1/13058_2015_Article_570.pdf