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Rigshospitalet - en del af Københavns Universitetshospital
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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

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  • Kristen N Stevens
  • Xianshu Wang
  • Zachary Fredericksen
  • Vernon S Pankratz
  • Mark H Greene
  • Irene L Andrulis
  • Mads Thomassen
  • Maria Caligo
  • Katherine L Nathanson
  • Anna Jakubowska
  • Ana Osorio
  • Ute Hamann
  • Andrew K Godwin
  • Dominique Stoppa-Lyonnet
  • Melissa Southey
  • Saundra S Buys
  • Christian F Singer
  • Thomas V O Hansen
  • Adalgeir Arason
  • Kenneth Offit
  • Marion Piedmonte
  • Marco Montagna
  • Evgeny Imyanitov
  • Laima Tihomirova
  • Lara Sucheston
  • Mary Beattie
  • Susan L Neuhausen
  • Csilla I Szabo
  • Jacques Simard
  • Amanda B Spurdle
  • Sue Healey
  • Xiaoqing Chen
  • Timothy R Rebbeck
  • Douglas F Easton
  • Georgia Chenevix-Trench
  • Antonis C Antoniou
  • Fergus J Couch
  • Swedish Breast Cancer Study, Sweden (SWE-BRCA)
Vis graf over relationer
Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [hazard ratio (HR) = 1.55, 95 % confidence interval (CI) 1.25-1.92, p = 6.0 × 10(-5)]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here, we report on an analysis of this variant in an additional 6,165 BRCA1 and 3,900 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for BRCA2 mutation carriers (HR = 1.09, 95 % CI 0.96-1.24, p = 0.18). No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline BRCA2 mutations.
OriginalsprogEngelsk
TidsskriftBreast Cancer Research and Treatment
Vol/bind136
Udgave nummer1
Sider (fra-til)295-302
Antal sider8
ISSN0167-6806
DOI
StatusUdgivet - 2012

ID: 36600670