Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12

AUTHORS

A Osorio, R L Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, A B Spurdle, J Beesley, X Chen, S Healey, , S L Neuhausen, Y C Ding, F J Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni, C I Szabo, L Foretova, M Zikan, K Claes, M H Greene, P Mai, G Rennert, F Lejbkowicz, O Barnett-Griness, I L Andrulis, H Ozcelik, N Weerasooriya, , A-M Gerdes, M Thomassen, D G Cruger, M A Caligo, E Friedman, B Kaufman, Y Laitman, S Cohen, T Kontorovich, R Gershoni-Baruch, E Dagan, H Jernström, M S Askmalm, B Arver, B Malmer, , S M Domchek, K L Nathanson, J Brunet, T Ramón y Cajal, D Yannoukakos, U Hamann, , F B L Hogervorst, S Verhoef, EB Gómez García, J T Wijnen, A van den Ouweland, , D F Easton, S Peock, M Cook, C T Oliver, D Frost, C Luccarini, D G Evans, F Lalloo, R Eeles, G Pichert, J Cook, S Hodgson, P J Morrison, F Douglas, A K Godwin, , O M Sinilnikova, L Barjhoux, D Stoppa-Lyonnet, V Moncoutier, S Giraud, C Cassini, L Olivier-Faivre, F Révillion, J-P Peyrat, D Muller, J-P Fricker, H T Lynch, E M John, S Buys, M Daly, J L Hopper, M B Terry, A Miron, Y Yassin, D Goldgar, , C F Singer, D Gschwantler-Kaulich, G Pfeiler, A-C Spiess, Thomas v O Hansen, O T Johannsson, T Kirchhoff, K Offit, K Kosarin, M Piedmonte, G C Rodriguez, K Wakeley, J F Boggess, J Basil, P E Schwartz, S V Blank, A E Toland, M Montagna, C Casella, E N Imyanitov, A Allavena, R K Schmutzler, B Versmold, C Engel, A Meindl, N Ditsch, N Arnold, D Niederacher, H Deißler, B Fiebig, R Varon-Mateeva, D Schaefer, U G Froster, T Caldes, M de la Hoya, L McGuffog, A C Antoniou, H Nevanlinna, P Radice, J Benítez

ABSTRACT

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. More... »

PAGES

2048

Journal

TITLE

British Journal of Cancer

ISSUE

12

VOLUME

101

Author Affiliations

  • Spanish National Cancer Research Centre
  • FIRC Institute of Molecular Oncology
  • Helsinki University Central Hospital
  • Centre Hospitalier Universitaire de Québec
  • QIMR Berghofer Medical Research Institute
  • University of California, Irvine
  • Mayo Clinic
  • Istituto Nazionale dei Tumori
  • European Institute of Oncology
  • Centro di Riferimento Oncologico
  • Masaryk Memorial Cancer Institute
  • Charles University
  • Ghent University Hospital
  • National Cancer Institute
  • Technion – Israel Institute of Technology
  • Lunenfeld-Tanenbaum Research Institute
  • Cancer Care Ontario
  • Odense University Hospital
  • Vejle Sygehus
  • Azienda Ospedaliera Universitaria Pisana
  • Tel Aviv University
  • Sheba Medical Center
  • Rambam Health Care Campus
  • Lund University
  • Linköping University Hospital
  • Karolinska University Hospital
  • Umeå University
  • University of Pennsylvania
  • Hospital de Sant Pau
  • National Centre of Scientific Research Demokritos
  • German Cancer Research Center
  • Antoni van Leeuwenhoek Hospital
  • Leiden University Medical Center
  • Erasmus University Medical Center
  • University of Cambridge
  • St Mary's Hospital
  • Royal Marsden NHS Foundation Trust
  • Guy's Hospital
  • Sheffield Children's Hospital
  • University College London
  • Belfast City Hospital
  • Temple University Health System
  • University of Lyon System
  • Paris Descartes University
  • Centre Oscar Lambret
  • Creighton University
  • Cancer Prevention Institute of California
  • Huntsman Cancer Institute
  • University of Melbourne
  • Columbia University
  • Dana–Farber Cancer Institute
  • University of Utah
  • Medical University of Vienna
  • National University Hospital of Iceland
  • Memorial Sloan Kettering Cancer Center
  • Roswell Park Cancer Institute
  • NorthShore University HealthSystem
  • Tufts Medical Center
  • University of North Carolina System
  • St. Elizabeth Healthcare
  • Yale University
  • New York University
  • The Ohio State University
  • University of Padua
  • Institute of Oncology NN Petrov
  • University of Turin
  • University of Cologne
  • Leipzig University
  • Technical University Munich
  • Ludwig Maximilian University of Munich
  • University Hospital Schleswig-Holstein
  • Heinrich Heine University Düsseldorf
  • University of Ulm
  • University of Regensburg
  • Goethe University Frankfurt
  • Hospital Clínico San Carlos
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/sj.bjc.6605416

    DOI

    http://dx.doi.org/10.1038/sj.bjc.6605416

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000460821

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19920816


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