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Identification of novel genetic markers of breast cancer survival

Identification of novel genetic markers of breast cancer survival
Identification of novel genetic markers of breast cancer survival
BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival.

METHODS: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided.

RESULTS: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10(-8)). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust.

CONCLUSIONS: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors
0027-8874
1-9
Guo, Q.
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Schmidt, M.K.
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Guo, Q., Schmidt, M.K. and Kraft, P. et al. (2015) Identification of novel genetic markers of breast cancer survival. JNCI Journal of the National Cancer Institute, 107 (5), 1-9, [djv081]. (doi:10.1093/jnci/djv081). (PMID:25890600)

Record type: Article

Abstract

BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival.

METHODS: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided.

RESULTS: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10(-8)). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust.

CONCLUSIONS: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors

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Accepted/In Press date: 26 February 2015
e-pub ahead of print date: 18 April 2015
Published date: May 2015
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 380667
URI: http://eprints.soton.ac.uk/id/eprint/380667
DOI: doi:10.1093/jnci/djv081
ISSN: 0027-8874
PURE UUID: 897a80f4-6055-45ae-b601-c86c4d62efd0
ORCID for D.M. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 18 Aug 2015 12:40
Last modified: 15 Mar 2024 02:40

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Contributors

Author: Q. Guo
Author: M.K. Schmidt
Author: P. Kraft
Author: S. Canisius
Author: C. Chen
Author: S. Khan
Author: J. Tyrer
Author: M.K. Bolla
Author: Q. Wang
Author: J. Dennis
Author: K. Michailidou
Author: M. Lush
Author: S. Kar
Author: J. Beesley
Author: A.M. Dunning
Author: M. Shah
Author: K. Czene
Author: H. Darabi
Author: M. Eriksson
Author: D. Lambrechts
Author: C. Weltens
Author: K. Leunen
Author: S.E. Bojesen
Author: B G. Nordestgaard
Author: S.F. Nielsen
Author: H. Flyger
Author: J. Chang-Claude
Author: A. Rudolph
Author: P. Seibold
Author: D. Flesch-Janys
Author: C. Blomqvist
Author: K. Aittomaki
Author: R. Fagerholm
Author: T.A. Muranen
Author: F.J. Couch
Author: J.E. Olson
Author: C. Vachon
Author: I.L. Andrulis
Author: J.A. Knight
Author: G. Glendon
Author: A.M. Mulligan
Author: A. Broeks
Author: F.B. Hogervorst
Author: C.A. Haiman
Author: B.E. Henderson
Author: F. Schumacher
Author: L. Le Marchand
Author: J.L. Hopper
Author: H. Tsimiklis
Author: C. Apicella
Author: M.C. Southey
Author: A. Cox
Author: S.S. Cross
Author: M.W.R. Reed
Author: G.G. Giles
Author: R.L. Milne
Author: C. McLean
Author: R. Winqvist
Author: K. Pylkas
Author: A. Jukkola-Vuorinen
Author: M. Grip
Author: M.J. Hooning
Author: A. Hollestelle
Author: J.W.M. Martens
Author: A.M.W. van den Ouweland
Author: F. Marme
Author: A. Schneeweiss
Author: R. Yang
Author: B. Burwinkel
Author: J. Figueroa
Author: S.J. Chanock
Author: J. Lissowska
Author: E.J. Sawyer
Author: I. Tomlinson
Author: M.J. Kerin
Author: N. Miller
Author: H. Brenner
Author: A.K. Dieffenbach
Author: V. Arndt
Author: B. Holleczek
Author: A. Mannermaa
Author: V. Kataja
Author: V.-M. Kosma
Author: J.M. Hartikainen
Author: J. Li
Author: J.S. Brand
Author: K. Humphreys
Author: P. Devilee
Author: R.A.E.M. Tollenaar
Author: C. Seynaeve
Author: P. Radice
Author: P. Peterlongo
Author: B. Bonanni
Author: P. Mariani
Author: P. A. Fasching
Author: M.W. Beckmann
Author: A. Hein
Author: A. B. Ekici
Author: G. Chenevix-Trench
Author: R. Balleine
Author: K.-A. Phillips
Author: J. Benitez
Author: M.P. Zamora
Author: J.I. Arias Perez
Author: P. Menendez
Author: A. Jakubowska
Author: J. Lubinski
Author: K. Jaworska-Bieniek
Author: K. Durda
Author: U. Hamann
Author: M. Kabisch
Author: H. U. Ulmer
Author: T. Rudiger
Author: S. Margolin
Author: V. Kristensen
Author: S. Nord
Author: D.G. Evans
Author: J.E. Abraham
Author: H.M. Earl
Author: L. Hiller
Author: J.A. Dunn
Author: S. Bowden
Author: C. Berg
Author: D. Campa
Author: W.R. Diver
Author: S.M. Gapstur
Author: M.M. Gaudet
Author: S.E. Hankinson
Author: R.N. Hoover
Author: A. Husing
Author: R. Kaaks
Author: M.J. Machiela
Author: W. Willett
Author: M. Barrdahl
Author: F. Canzian
Author: S.-F. Chin
Author: C. Caldas
Author: D.J. Hunter
Author: S. Lindstrom
Author: M. Garcia-Closas
Author: P. Hall
Author: D.F. Easton
Author: D.M. Eccles ORCID iD
Author: N. Rahman
Author: H. Nevanlinna
Author: P.D.P. Pharoah

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