Ontology highlight
ABSTRACT:
SUBMITTER: Liu J
PROVIDER: S-EPMC4948019 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Liu Jingjing J Prager-van der Smissen Wendy J C WJ Schmidt Marjanka K MK Collée J Margriet JM Cornelissen Sten S Lamping Roy R Nieuwlaat Anja A Foekens John A JA Hooning Maartje J MJ Verhoef Senno S van den Ouweland Ans M W AM Hogervorst Frans B L FB Martens John W M JW Hollestelle Antoinette A
Scientific reports 20160718
The HOXB13 p.G84E mutation has been firmly established as a prostate cancer susceptibility allele. Although HOXB13 also plays a role in breast tumor progression, the association of HOXB13 p.G84E with breast cancer risk is less evident. Therefore, we comprehensively interrogated the entire HOXB13 coding sequence for mutations in 1,250 non-BRCA1/2 familial breast cancer cases and 800 controls. We identified two predicted deleterious missense mutations, p.G84E and p.R217C, that were recurrent among ...[more]