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  • Antonis C. Antoniou, Xianshu Wang, +175 authors Fergus J Couch
  • Biology, Medicine
  • Nature Genetics
  • 2010 (First Published: 1 October 2010)
  • Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who wereContinue Reading
  • Claude Houdayer, Virginie Caux-Moncoutier, +25 authors Dominique Stoppa-Lyonnet
  • Biology, Medicine
  • Human mutation
  • 2012 (First Published: 1 August 2012)
  • Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation and userContinue Reading
  • Laure Perrin-Vidoz, Olga Sinilnikova, D Stoppalyonnet, Gilbert M. Lenoir, Sylvie Mazoyer
  • Biology, Medicine
  • Human molecular genetics
  • 2002 (First Published: 1 November 2002)
  • Germline mutations in the BRCA1 gene are scattered over the 22 coding exons and most of them generate premature termination codons (PTCs). A mechanism called nonsense-mediated mRNA decay (NMD) isContinue Reading
  • Stig Egil Bojesen, Karen A. Pooley, +434 authors Alison M. Dunning
  • Biology, Medicine
  • Nature Genetics
  • 2013 (First Published: 1 April 2013)
  • TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus inContinue Reading
  • Simon A. Gayther, William Warren, +13 authors Bruce A. J. Ponder
  • Biology, Medicine
  • Nature Genetics
  • 1995 (First Published: 1 December 1995)
  • Mutations in the BRCA1 gene, discovered in 1994, are associated with an 80–90% lifetime risk of breast cancer. We have analysed 60 families with a history of breast and/or ovarian cancer for germlineContinue Reading