University of Sussex
Browse
s13058-015-0570-7.pdf (876.59 kB)

Common germline polymorphisms associated with breast cancer-specific survival

Download (876.59 kB)
journal contribution
posted on 2023-06-15, 20:50 authored by A Pirie, Q Guo, P Kraft, S Canisius, D M Eccles, N Rahman, H Nevanlinna, C Chen, S Khan, J Tyrer, M K Bolla, Q Wang, J Dennis, K Michailidou, M Lush, A M Dunning, M Shah, K Czene, H Darabi, M Eriksson, D Lambrechts, C Weltens, K Leunen, C van Ongeval, B G Nordestgaard, S F Nielsen, H Flyger, A Rudolph, P Seibold, D Flesch-Janys, C Blomqvist, K Aittomäki, R Fagerholm, T A Muranen, J E Olsen, E Hallberg, C Vachon, J A Knight, G Glendon, A.M. Mulligan, A. Broeks, S. Cornelissen, C A Haiman, B E Henderson, F Schumacher, L Le Marchand, J L Hopper, H Tsimiklis, C Apicella, M C Southey, S S Cross, Malcolm ReedMalcolm Reed, G G Giles, R L Milne, C McLean, R Winqvist, K Pylkäs, A Jukkola-Vuorinen, M Grip, M J Hooning, A Hollestelle, J W M Martens, A M W van den Ouweland, F Marme, A Schneeweiss, R Yang, B Burwinkel, J Figueroa, S J Chanock, J Lissowska, E J Sawyer, I Tomlinson, M J Kerin, N Miller, H Brenner, K Butterbach, B Holleczek, V Kataja, V-M Kosma, JM Hartikainen, J Li, J S Brand, K Humphreys, P Devilee, R A E M Tollenaar, C Seynaeve, P Radice, P Peterlongo, S Manoukian, F Ficarazzi, M W Beckmann, A Hein, A B Ekici, R Balleine, K-A Phillips, J Benitez, M P Zamora, J I A Perez, P Menéndez, A Jakubowska, J Lubinski, J Gronwald, K Durda, U Hamann, M Kabisch, H U Ulmer, T Rüdiger, S Margolin, V Kristensen, S Nord, D G Evans, J Abraham, H Earl, C J Poole, L Hiller, J A Dunn, S Bowden, D Campa, W R Diver, S M Gapstur, M M Gaudet, S Hankinson, R N Hoover, A Hüsing, R Kaaks, M J Machiela, W Willett, M Barrdahl, F Canzian, S-F Chin, C Caldas, D J Hunter, S Lindstrom, M Garcia-Closas, F J Couch, G Chenevix-Trench, A Mannermaa, I L Andrulis, P Hall, J Chang-Claude, D F Easton, S E Bojesen, A Cox, P A Fasching, P D P Pharoah, M K Schmidt
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. © 2015 Pirie et al.

History

Publication status

  • Published

File Version

  • Published version

Journal

Breast Cancer Research

ISSN

14655411

Publisher

BioMed Central Ltd.

Issue

58

Volume

17

Department affiliated with

  • BSMS Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2016-03-18

First Open Access (FOA) Date

2016-03-18

First Compliant Deposit (FCD) Date

2016-03-18

Usage metrics

    University of Sussex (Publications)

    Categories

    No categories selected

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC