Genomic Risk Factors for Cervical Cancer
Dhanya Ramachandran1, Thilo Dörk1
1Gynaecology Research Unit, Department of Gynaecology and Obstetrics, Comprehensive Cancer Center, Hannover Medical School, D-30625 Hannover, Germany.
Cancers
|October 23, 2021
Summary
This study identifies key genetic regions, including 2q14, 17q12, and 5p15.33, associated with cervical cancer risk beyond human papillomavirus infection. These findings may advance precision medicine for cervical cancer prevention.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- Cervical cancer is a significant global health issue, primarily linked to high-risk human papillomavirus (HPV) infection.
- While HPV is necessary, it's not sufficient for invasive cervical cancer development, suggesting a role for genetic susceptibility.
- Few genomic susceptibility loci for cervical cancer have been identified despite its heritability.
Purpose of the Study:
- To review and identify consistently replicated non-human leukocyte antigen (HLA) cervical cancer susceptibility loci.
- To discuss the evidence, knowledge gaps, and future directions for these genetic loci.
- To explore the potential impact of these genetic findings on precision medicine strategies for cervical cancer.
Main Methods:
- Review of recent genome-wide association studies (GWAS) and meta-analyses in large cohorts.
- Focus on consistently replicated genetic variants associated with cervical cancer risk.
- Analysis of evidence for specific non-HLA susceptibility loci.
Main Results:
- Identified and proposed 2q14 (PAX8), 17q12 (GSDMB), and 5p15.33 (CLPTM1L) as consistently replicated non-HLA cervical cancer susceptibility loci.
- Corroborated evidence for risk variants at the 6p21.3 locus (HLA).
- Highlighted the need for validation of associations with variants outside the HLA region.
Conclusions:
- The identified non-HLA loci (2q14, 17q12, 5p15.33) represent significant advancements in understanding cervical cancer genetic susceptibility.
- Further research is needed to elucidate the functional roles of these loci and their interactions.
- These findings hold promise for developing targeted prevention and treatment strategies within precision medicine frameworks for cervical cancer.
Related Concept Videos
02:59Cancer Prevention
6.4K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.4K
01:06Induced Pluripotent Stem Cells
4.6K
Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
Somatic...
4.6K
01:33Cancer-Critical Genes I: Proto-oncogenes
9.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
01:25Mutagenicity and Carcinogenicity
1.5K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.5K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
8.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.4K
02:21Cancers Originate from Somatic Mutations in a Single Cell
13.2K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
13.2K