Breast Cancer Research and Treatment

, Volume 122, Issue 1, pp 281–285

Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

  • Amanda B. Spurdle
  • Paul Fahey
  • Xiaoqing Chen
  • Lesley McGuffog
  • kConFab
  • Douglas Easton
  • Susan Peock
  • Margaret Cook
  • EMBRACE
  • Jacques Simard
  • INHERIT
  • Tim R. Rebbeck
  • MAGIC
  • Antonis C. Antoniou
  • Georgia Chenevix-Trench
Brief Report

DOI: 10.1007/s10549-009-0601-0

Cite this article as:
Spurdle, A.B., Fahey, P., Chen, X. et al. Breast Cancer Res Treat (2010) 122: 281. doi:10.1007/s10549-009-0601-0

Abstract

The GSTP1, GSTM1, and GSTT1 detoxification genes all have functional polymorphisms that are common in the general population. A single study of 320 BRCA1/2 carriers previously assessed their effect in BRCA1 or BRCA2 mutation carriers. This study showed no evidence for altered risk of breast cancer for individuals with the GSTT1 and GSTM1 deletion variants, but did report that the GSTP1 Ile105Val (rs1695) variant was associated with increased breast cancer risk in carriers. We investigated the association between these three GST polymorphisms and breast cancer risk using existing data from 718 women BRCA1 and BRCA2 mutation carriers from Australia, the UK, Canada, and the USA. Data were analyzed within a proportional hazards framework using Cox regression. There was no evidence to show that any of the polymorphisms modified disease risk for BRCA1 or BRCA2 carriers, and there was no evidence for heterogeneity between sites. These results support the need for replication studies to confirm or refute hypothesis-generating studies.

Keywords

GST polymorphisms BRCA1 BRCA2 Modifier gene 

Copyright information

© Springer Science+Business Media, LLC. 2009

Authors and Affiliations

  • Amanda B. Spurdle
    • 1
  • Paul Fahey
    • 1
  • Xiaoqing Chen
    • 1
  • Lesley McGuffog
    • 2
  • kConFab
    • 3
  • Douglas Easton
    • 2
  • Susan Peock
    • 2
  • Margaret Cook
    • 2
  • EMBRACE
    • 2
  • Jacques Simard
    • 4
  • INHERIT
    • 4
  • Tim R. Rebbeck
    • 5
  • MAGIC
    • 5
  • Antonis C. Antoniou
    • 2
  • Georgia Chenevix-Trench
    • 1
  1. 1.Division of Genetics and Population HealthQueensland Institute of Medical ResearchHerstonAustralia
  2. 2.Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology UnitUniversity of CambridgeCambridgeUK
  3. 3.The Kathleen Cuningham Foundation Consortium for Research into Familial Breast CancerPeter MacCallum Cancer CentreMelbourneAustralia
  4. 4.Cancer Genomics LaboratoryCentre Hospitalier Universitaire de Québec and Laval UniversityQuebecCanada
  5. 5.University of Pennsylvania School of MedicinePhiladelphiaUSA

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