Genomic Risk Factors for Cervical Cancer

Ramachandran, Dhanya; Dörk, Thilo

doi:10.20944/preprints202109.0441.v1

Cited by 4 publications

(1 citation statement)

References 157 publications

(191 reference statements)

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“…Family studies have demonstrated familial aggregation of cervical cancer consistent with a significant heritable component, with estimates of heritability ranging from 27 to 36% ( 8–11 ). Genome-wide association studies (GWASs) have so far identified consistent genomic regions associated with cervical cancer on chromosomes 6p21.32-33 (the human leukocyte antigen locus), 5p15.3 ( CLPTM1L / TERT ), 17q12 ( GSDMB ) and 2q14 ( PAX8 ) ( 12–16 ) (reviewed in 17 ). These variants, however, may only explain a small proportion of cervical cancer heritability ( 18 , 19 ).…”

Section: Introductionmentioning

confidence: 99%

Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

Ramachandran

Dennis

Fachal

et al. 2022

Human Molecular Genetics

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Cervical cancer is amongst the leading causes of cancer-related death in females worldwide. Infection by Human Papillomavirus (HPV) is an established risk factor for cancer development. However, genetic factors contributing to disease risk remain largely unknown. We report on a genome-wide association study (GWAS) on 375 German cervical cancer patients and 866 healthy controls, followed by a replication study comprising 658 patients with invasive cervical cancer, 1361 with cervical dysplasia and 841 healthy controls. Functional validation was performed for the top GWAS variant on chromosome 14q12 (rs225902, close to PRKD1). After bioinformatic annotation and in silico predictions, we performed transcript analysis in a cervical tissue series of 317 samples, and demonstrate rs225902 as an expression quantitative trait locus (eQTL) for FOXG1 and two tightly co-regulated long non-coding RNAs (lncRNAs) at this genomic region, CTD-2251F13 (lnc-PRKD1–1) and CTD-2503I6 (lnc-FOXG1–6). We also show allele-specific effects of the 14q12 variants via luciferase assays. We propose a combined effect of genotype, HPV status and gene expression at this locus on cervical cancer progression. Taken together, this work uncovers a potential candidate locus with regulatory functions and contributes to the understanding of genetic susceptibility to cervical cancer.

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Section: Introductionmentioning

confidence: 99%

Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

Ramachandran

Dennis

Fachal

et al. 2022

Human Molecular Genetics

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The Impact of Psychological Distress on Cervical Cancer

Chiu

2023

Cancers

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Objective: Psychological distress is considered a factor for cancer development. However, the impact of mood disorders (depression and bipolar) on the development of cervical cancer remains uncertain. We conducted a nationwide population-based retrospective cohort study to investigate the association between mood disorders and the subsequent risk of developing cervical cancer. Methods: A total of 138,130 participants’ profiles between 2000 and 2012 were extracted from the National Health Insurance Research Database and subdivided into a mood-disorder cohort (27,626 participants) and a non-mood-disorder cohort (110,504 participants). Cohorts were propensity-matched for a 1:4 ratio according to age and index year. The Cox proportional hazards regression model was utilized for assessing cervical cancer risk between cohorts. Results: Kaplan–Meier analysis revealed that the mood-disorder cohort had a higher cumulative incidence of cervical cancer. The mood-disorder cohort was also associated with an increased risk of cervical cancer after adjustments for potential confounders. Subgroup analysis revealed a negative impact of mood disorders on cervical cancer, especially in the 30–50 years and white-collar groups. Conclusions: Our findings demonstrated that mood disorders were associated with an increased risk of cervical cancer development, which provide helpful information for clinical strategies to reduce the incidence of cervical cancer in this vulnerable population.

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Cervical Cancer Prophylaxis—State-of-the-Art and Perspectives

Poniewierza¹,

Panek

2022

Healthcare

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Background: Each year 604,127 new cases of cervical cancer (CC) are diagnosed, and 341,831 individuals die from the disease. It is the fourth most common cancer among women and the fourth most common cause of death from female cancers worldwide. The pathogenesis of CC is associated with human papillomavirus (HPV) infections and consists of several steps involving cell proliferation outside the human body’s control mechanisms. Strategies to prevent CC are based on screening and vaccination. Scope of the Review: The aim of this paper was to collect and analyze the available literature on the issue of CC prevention and the impact of the COVID-19 pandemic on its implementation. For this purpose, PubMed and Google Scholar databases were searched using keywords, such as “cervical cancer”; “HPV”; “prevention”; “prophylaxis”; “vaccination”; “screening” and “COVID-19” in different variations. Only articles published since 2018 were included in the study. Conclusions: Selected European countries have different CC prevention programs funded by national budgets. This translates into observed differences in the risk of death from CC (age-standardized rate Malta = 1.1, Poland = 5.9). COVID-19 pandemic due to disruption of CC screening may exacerbate these differences in the future. To improve the situation, new screening methods, such as p16/Ki67, HPV self-testing, and the use of artificial intelligence in colposcopic assessment, should be disseminated, as well as free HPV vaccination programs implemented in all countries. The search for new solutions is not without significance and entails ultra-sensitive screening tests for risk groups (mRNA E6/E7, SOX1/SOX14), HPV vaccines with shorter dosing schedules, and new therapeutic pathways using nanotheranostics.

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Genomic Risk Factors for Cervical Cancer

Cited by 4 publications

References 157 publications

Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

The Impact of Psychological Distress on Cervical Cancer

Cervical Cancer Prophylaxis—State-of-the-Art and Perspectives

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