Article
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Breast cancer research : BCR - 18 Apr 2012
Maia Ana-Teresa, Antoniou Antonis C, O'Reilly Martin, Samarajiwa Shamith, Dunning Mark, Kartsonaki Christiana, Chin Suet-Feung, Curtis Christina N, McGuffog Lesley, Domchek Susan M, Easton Douglas F, Peock Susan, Frost Debra, Evans D Gareth, Eeles Ros, Izatt Louise, Adlard Julian, Eccles Diana, Sinilnikova Olga M, Mazoyer Sylvie, Stoppa-Lyonnet Dominique, Gauthier-Villars Marion, Faivre Laurence, Venat-Bouvet Laurence, Delnatte Capucine, Nevanlinna Heli, Couch Fergus J, Godwin Andrew K, Caligo Maria Adelaide, Barkardottir Rosa B, Chen Xiaoqing, Beesley Jonathan, Healey Sue, Caldas Carlos, Chenevix-Trench Georgia, Ponder Bruce A J
Abstract excerpt
INTRODUCTION: 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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.