Genomic risk factors for cervical cancer: current status of the Cervigen study

Cervical cancer risk has a heritable component but the underlying genomic factors are largely unknown. The Cervigen Consortium, comprising of nine German centers, aims to identify risk factors through genetic case-control association studies in over 1,000 cases with invasive cervical cancer, over 1,000 cases with cervical dysplasias and over 1,000 controls. We have validated previously reported candidate gene loci and confirmed significant associations with three independent variants at the HLA locus (chr6), one variant atPAX8 (chr2) and one variant at GSDMB (chr17) in our population. We further performed a genome-wide association study and identified and replicated a novel signal atPRKD1 (chr14). Bioinformatic analyses and functional studies suggest a role for two HPV-regulated long non-coding RNAs at this locus. These results may bring us closer to understanding key contributors to cervical cancer etiology and to developing polygenic risk scores that could become helpful in clinical decision making.

Second Publication First publication in the Human Molecular Genetics. "Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer | Human Molecular Genetics | Oxford Academic"

Publication History

Article published online:
11 October 2022