scholarly journals Genetic Polymorphism of Cancer Susceptibility Genes and HPV Infection in Cervical Carcinogenesis

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
Osamu Nunobiki ◽  
Masatsugu Ueda ◽  
Eisaku Toji ◽  
Michiko Yamamoto ◽  
Kyoko Akashi ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Association Studies ◽  
Gene Promoter ◽  
Hpv Infection ◽  
Host Susceptibility ◽  
Cervical Carcinogenesis ◽  
Mdm2 Gene ◽  
P53 Codon 72 ◽  
Cancer Susceptibility Genes ◽  
Hpv Types

It is widely accepted that specific human papillomavirus (HPV) types are the central etiologic agent of cervical carcinogenesis. However, a number of infected women do not develop invasive lesions, suggesting that other environmental and host factors may play decisive roles in the persistence of HPV infection and further malignant conversion of cervical epithelium. Although many previous reports have focused on HPV and environmental factors, the role of host susceptibility to cervical carcinogenesis is largely unknown. Here, we review the findings of genetic association studies in cervical carcinogenesis with special reference to polymorphisms of glutathione-S-transferase (GST) isoforms, p53 codon 72, murine double-minute 2 homolog (MDM2) gene promoter 309, and FAS gene promoter -670 together with HPV types including our recent research results.

scholarly journals Multi-tissue transcriptome-wide association study identifies genetic mechanisms underlying endometrial cancer susceptibility

2020 ◽  
Author(s):  
Pik-Fang Kho ◽  
Gabriel Cuellar Partida ◽  
Thilo Dörk ◽  
Ellen L. Goode ◽  
Diether Lambrechts ◽  
...  
Keyword(s):  
Risk Factors ◽  
Endometrial Cancer ◽  
Association Study ◽  
Statistical Power ◽  
Cancer Susceptibility ◽  
Association Studies ◽  
Susceptibility Gene ◽  
Susceptibility Genes ◽  
Genome Wide Association Studies ◽  
Cancer Susceptibility Genes

AbstractGenome-wide association studies (GWAS) of endometrial cancer have identified 16 genetic susceptibility loci. To identify candidate endometrial cancer susceptibility genes, we have performed the first transcriptome-wide association study (TWAS) of endometrial cancer. For this analysis, we have used the largest endometrial cancer GWAS and gene expression from 48 tissues to maximise statistical power. We used colocalisation analysis to prioritise seven candidate susceptibility genes, including CYP19A1, which wes previously established as an endometrial cancer susceptibility gene. Notably, one of the candidate susceptibility genes was located at 17q24.2, a potentially novel risk locus for endometrial cancer. Using phenome-wide association analysis, candidate susceptibility genes were found to associate with traits related to endometrial cancer risk factors, in addition to other clinical phenotypes that may provide novel risk factors. TWAS data were also used to perform drug repurposing analysis and identified 14 compounds; two of these are tubulin inhibitors, a drug class used to treat advanced endometrial cancer. In summary, this study has revealed biologically relevant endometrial cancer susceptibility genes, providing insights into endometrial cancer aetiology and avenues for the development of new treatments.

scholarly journals Cervical Cancer, Papillomavirus, and miRNA Dysfunction

2021 ◽  
Vol 8 ◽  
Author(s):  
Evelyn Gabriela Bañuelos-Villegas ◽  
María Fernanda Pérez-yPérez ◽  
Luis Marat Alvarez-Salas
Keyword(s):  
Cervical Cancer ◽  
Human Cancer ◽  
Precancerous Lesions ◽  
Invasive Disease ◽  
Hpv Infection ◽  
Infection Process ◽  
Cervical Carcinogenesis ◽  
Regulate Gene Expression ◽  
Hpv Types ◽  
Cervical Tumors

Cervical cancer is the leading cause of death by cancer in women from developing countries. Persistent infection with high-risk human papillomavirus (HPV) types 16 and 18 is a major risk factor for cervical carcinogenesis. Nevertheless, only a few women with morphologic expression of HPV infection progress into invasive disease suggesting the involvement of other factors in cervical carcinogenesis. MicroRNAs (miRNAs) are conserved small non-coding RNAs that negatively regulate gene expression including genes involved in fundamental biological processes and human cancer. Dysregulation of miRNAs has been widely reported in cervical cancer. This work focuses on reviewing the miRNAs affected during the HPV infection process, as well relevant miRNAs that contribute to the development and maintenance of malignant cervical tumor cells. Finally, we recapitulate on miRNAs that may be used to distinguish between healthy individuals from patients with precancerous lesions or cervical tumors.

scholarly journals Genetic Predisposition to Persistent Human Papillomavirus-Infection and Virus-Induced Cancers

2021 ◽  
Vol 9 (10) ◽  
pp. 2092
Author(s):  
Helen Espinoza ◽  
Kim T. Ha ◽  
Trang T. Pham ◽  
J. Luis Espinoza
Keyword(s):  
Genetic Variants ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Hpv Infection ◽  
Human Papillomaviruses ◽  
Sexually Transmitted ◽  
Individual Susceptibility ◽  
Hpv Types ◽  
Genetic And Environmental Factors ◽  
The Individual

Human papillomaviruses (HPVs) are the most common sexually transmitted pathogens worldwide and among the more than 200 identified HPV types, approximately 15 high risk (HR-HPV) types are oncogenic, being strongly associated with the development of cervical cancer, anogenital cancers and an increasing fraction of head and neck squamous cell carcinomas (HNSCC). HPV-associated cervix cancer accounts for 83% of HPV-attributable cancers, and more than two-thirds of those cases occur in developing countries. Despite the high frequency of HPV infections, in most cases, the virus is cleared by the host immune response and only a small proportion of infected individuals develop persistent infections that can result in malignant transformation, indicating that other elements, including biological, genetic and environmental factors may influence the individual susceptibility to HPV-associated cancers. Previous studies have quantified that heritability, in the form of genetic variants, common in the general population, is implicated in nearly 30% of cervical cancers and a large number of studies conducted across various populations have identified genetic variants that appear to be associated with genes that predispose or protect the host to HPV infections thereby affecting individual susceptibility to HPV-associated cancers. In this article, we provide an overview of gene association studies on HPV-associated cancers with emphasis on genome-wide association study (GWAS) that have identified novel genetic factors linked to HPV infection or HPV-associated cancers.

scholarly journals Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 75-80 ◽  
Author(s):  
Thilo Dörk ◽  
N Bogdanova
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Association Studies ◽  
Strand Break ◽  
Susceptibility Genes ◽  
Genome Wide Association Studies ◽  
Breast And Ovarian Cancer ◽  
Cancer Susceptibility Genes ◽  
Genome Wide ◽  
Dna Double Strand Break

ABSTRACT Over the last few years, evidence has been accumulated that several susceptibility genes exist that differentially impact on the lifetime risk for breast or ovarian cancer. High-to-moderate penetrance alleles have been identified in genes involved in DNA double-strand break signaling and repair, and many low-penetrance susceptibility loci have been identified through genome-wide association studies. In this review, we briefly summarize present knowledge about breast and ovarian cancer susceptibility genes and discuss their implications for risk prediction and therapy.

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