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Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

  • Tomas Kirchhoff
  • , Mia M Gaudet
  • , Antonis C Antoniou
  • , Lesley McGuffog
  • , Manjeet K Humphreys
  • , Alison M Dunning
  • , Stig E Bojesen
  • , Børge G Nordestgaard
  • , Henrik Flyger
  • , Daehee Kang
  • , Keun-Young Yoo
  • , Dong-Young Noh
  • , Sei-Hyun Ahn
  • , Thilo Dork
  • , Peter Schürmann
  • , Johann H Karstens
  • , Peter Hillemanns
  • , Fergus J Couch
  • , Janet Olson
  • , Celine Vachon
  • Xianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Annegien Broeks, Marjanka K Schmidt, Laura J Van 't Veer, Linde M Braaf, Nichola Johnson, Olivia Fletcher, Lorna Gibson, Julian Peto, Clare Turnbull, Sheila Seal, Anthony Renwick, Nazneen Rahman, Pei-Ei Wu, Jyh-Cherng Yu, Chia-Ni Hsiung, Chen-Yang Shen, Melissa C Southey, John L Hopper, Fleur Hammet, Thijs Van Dorpe, GENICA Network

    Research output: Contribution to journal › Journal article › Research › peer-review

    Abstract

    Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = 
    Original languageEnglish
    JournalP L o S One
    Volume7
    Issue number6
    Pages (from-to)e35706
    ISSN1932-6203
    DOIs
    Publication statusPublished - 2012

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