Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Genomic Risk Factors for Cervical Cancer

Version 1 : Received: 21 September 2021 / Approved: 24 September 2021 / Online: 24 September 2021 (15:28:14 CEST)

A peer-reviewed article of this Preprint also exists.

Ramachandran, D.; Dörk, T. Genomic Risk Factors for Cervical Cancer. Cancers 2021, 13, 5137. Ramachandran, D.; Dörk, T. Genomic Risk Factors for Cervical Cancer. Cancers 2021, 13, 5137.


Cervical cancer is the fourth common cancer amongst women worldwide. Environmental factors such as smoking and obesity, and recurrent infection by high-risk human papillomavirus subtypes are known to promote progression towards invasive cervical disease. Infection by high-risk HPV is necessary in most cases but not sufficient to develop invasive cervical cancer. Despite a predicted genetic heritability of between 27-36%, known genetic susceptibility loci that may be tumorigenic or influence host response to infection, only account for a small fraction of heritable risk factors so far. Various biobank-driven population based studies and meta-analyses have found corroborative evidence for several risk variants at the 6p21.3 locus (HLA), while many reports of variants outside the HLA region remain to be validated in other cohorts. Here, we review cervical cancer susceptibility variants arising from recent genome-wide association studies and meta-analysis in large cohorts and propose 2q14 (PAX8), 17q12 (GSDMB), and 5p15.33 (CLPTM1L) as consistently replicated non-HLA cervical cancer susceptibility loci. We further discuss the available evidence for these loci, knowledge gaps, future perspectives, and the potential impact of these findings on precision medicine strategies to combat cervical cancer.


Cervical cancer; cervical dysplasia, HPV, HLA, GWAS, genetic susceptibility, meta-analysis, SNP, eQTL, Papillomavirus


Medicine and Pharmacology, Oncology and Oncogenics

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