TY - JOUR AU - Maia, Ana-Teresa AU - Antoniou, Antonis C. AU - O'Reilly, Martin AU - Samarajiwa, Shamith AU - Dunning, Mark AU - Kartsonaki, Christiana AU - Chin, Suet-Feung AU - Curtis, Christina N. AU - McGuffog, Lesley AU - Domchek, Susan M. AU - Easton, Douglas F. AU - Peock, Susan AU - Frost, Debra AU - Evans, D. Gareth AU - Eeles, Ros AU - Izatt, Louise AU - Adlard, Julian AU - Eccles, Diana AU - Sinilnikova, Olga M. AU - Mazoyer, Sylvie AU - Stoppa-Lyonnet, Dominique AU - Gauthier-Villars, Marion AU - Faivre, Laurence AU - Venat-Bouvet, Laurence AU - Delnatte, Capucine AU - Nevanlinna, Heli AU - Couch, Fergus J. AU - Godwin, Andrew K. AU - Caligo, Maria Adelaide AU - Barkardottir, Rosa B. AU - Chen, Xiaoqing AU - Beesley, Jonathan AU - Healey, Sue AU - Caldas, Carlos AU - Chenevix-Trench, Georgia AU - Ponder, Bruce AJ AU - EMBRACE AU - GEMO Study Collaborators AU - SWE-BRCA AU - kConFab Investigators PY - 2012 DA - 2012/04/18 TI - Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers JO - Breast Cancer Research SP - R63 VL - 14 IS - 2 AB - Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism. SN - 1465-542X UR - https://doi.org/10.1186/bcr3169 DO - 10.1186/bcr3169 ID - Maia2012 ER -