Article
Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.
European journal of human genetics : EJHG - 1 Aug 2016
Garcia Amandine I, Buisson Monique, Damiola Francesca, Tessereau Chloé, Barjhoux Laure, Verny-Pierre Carole, Sornin Valérie, Dondon Marie-Gabrielle, Eon-Marchais Séverine, Caron Olivier, Gautier-Villars Marion, Coupier Isabelle, Buecher Bruno, Vennin Philippe, Belotti Muriel, Lortholary Alain, Gesta Paul, Dugast Catherine, Noguès Catherine, Fricker Jean-Pierre, Faivre Laurence, Stoppa-Lyonnet Dominique, Andrieu Nadine, Sinilnikova Olga M, Mazoyer Sylvie
Abstract excerpt
Although a wide number of breast cancer susceptibility alleles associated with various levels of risk have been identified to date, about 50% of the heritability is still missing. Although the major BRCA1 and BRCA2 genes are being extensively screened for truncating and missense variants in breast and/or ovarian cancer families, potential regulatory variants affecting their expression remain largely unexplored....
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