Related Experiment Video
Updated: Mar 13, 2026

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
Published on: March 1, 2024
HNF1B variants associate with promoter methylation and regulate gene networks activated in prostate and ovarian
Helen Ross-Adams1, Stephen Ball2, Kate Lawrenson3
1Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
Abstract:
Two independent regions within HNF1B are consistently identified in prostate and ovarian cancer genome-wide association studies (GWAS); their functional roles are unclear. We link prostate cancer (PC) risk SNPs rs11649743 and rs3760511 with elevated HNF1B gene expression and allele-specific epigenetic silencing, and outline a mechanism by which common risk variants could effect functional changes that increase disease risk: functional assays suggest that HNF1B is a pro-differentiation factor that suppresses epithelial-to-mesenchymal transition (EMT) in unmethylated, healthy tissues. This tumor-suppressor activity is lost when HNF1B is silenced by promoter methylation in the progression to PC. Epigenetic inactivation of HNF1B in ovarian cancer also associates with known risk SNPs, with a similar impact on EMT. This represents one of the first comprehensive studies into the pleiotropic role of a GWAS-associated transcription factor across distinct cancer types, and is the first to describe a conserved role for a multi-cancer genetic risk factor.
Related Concept Videos
Epigenetic Regulation
X-chromosome...
Epigenetic Regulation
The Nucleolus
Histone Variants at the Centromere
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Regulation of Angiogenesis and Blood Supply

