INTERNATIONAL CONGRESS OF
CancerGenetics
Single Nucleotide Polymorphisms (SNPs) in Lung Cancer: Genetic Risk Factors, Functional Mechanisms, and Clinical Implications
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shima booali,1,*
1. 1. Department of cell and molecular biology, School of Biology, College of Science, University of Tehran, Tehran, Iran
- Introduction: abstract Lung cancer continues to be a major cause of cancer-related death globally, and late-stage diagnosis is the main cause of the poor prognosis. Even though imaging and molecular medicines have significantly improved patient outcomes, early identification remains an important factor for improving survival. The genetic factors involved in lung cancer, especially single-nucleotide polymorphisms (SNPs), have drawn more attention recently due to developments in molecular therapies. SNPs are seen as potential markers for diagnosis, risk prediction, prognosis, and treatment. Lung cancer, particularly the most prevalent subtype, non-small cell lung cancer (NSCLC), has been associated with several SNPs. Genetic research and GWAS have revealed these correlations. Specifically, rs8034191(CHRNA5), rs402710(CLPTM1L), rs2736100(TERT), and rs16969968(CHRNA5) have been examined and confirmed in various populations on many occasions. These variations directly impact the carcinogenesis process, as they are involved in key cellular functions such as apoptosis, telomere preservation, and nicotinic acetylcholine signaling. Different functional pathways influence SNPs and contribute to the development of cancer. For instance, SNPs rs8034191 and rs16969968 are found on chromosome 15q25 in the CHRNA5-A3-B4 gene cluster. These SNPs indirectly raise the risk of lung cancer in smokers by controlling inflammation and nicotine addiction. Furthermore, rs402710, which is found in the CLPTM1L gene, promotes anti-apoptotic signaling, which results in resistance to chemotherapy. SNPs hold clinical significance beyond early detection techniques. Validated SNPs can be incorporated into risk prediction models to help identify high-risk patients who might benefit from low-dose CT screening, potentially enhancing early diagnosis and survival. However, population-specific validation, SNP panel standardization, and integration into clinical practice still need attention. This comprehensive review offers details on SNPs linked to cancer, including their identification, function, and effect on cellular activity. SNPs appropriate for lung cancer diagnostic panels were also found and highlighted. We specifically looked at appropriate SNPs based on the genetic profile of under-represented groups, such as the Middle East, and future research in this field will result in the development of more precise panels for the diagnosis of this kind of cancer. In the end, SNPs are promising non-invasive and affordable biomarkers for early detection, personalized therapy treatments, and individualized cancer risk assessment.
- Methods: Lung cancer continues to be a major cause of cancer-related death globally, and late-stage diagnosis is the main cause of the poor prognosis. Even though imaging and molecular medicines have significantly improved patient outcomes, early identification remains an important factor for improving survival. The genetic factors involved in lung cancer, especially single-nucleotide polymorphisms (SNPs), have drawn more attention recently due to developments in molecular therapies. SNPs are seen as potential markers for diagnosis, risk prediction, prognosis, and treatment. Lung cancer, particularly the most prevalent subtype, non-small cell lung cancer (NSCLC), has been associated with several SNPs. Genetic research and GWAS have revealed these correlations. Specifically, rs8034191(CHRNA5), rs402710(CLPTM1L), rs2736100(TERT), and rs16969968(CHRNA5) have been examined and confirmed in various populations on many occasions. These variations directly impact the carcinogenesis process, as they are involved in key cellular functions such as apoptosis, telomere preservation, and nicotinic acetylcholine signaling. Different functional pathways influence SNPs and contribute to the development of cancer. For instance, SNPs rs8034191 and rs16969968 are found on chromosome 15q25 in the CHRNA5-A3-B4 gene cluster. These SNPs indirectly raise the risk of lung cancer in smokers by controlling inflammation and nicotine addiction. Furthermore, rs402710, which is found in the CLPTM1L gene, promotes anti-apoptotic signaling, which results in resistance to chemotherapy. SNPs hold clinical significance beyond early detection techniques. Validated SNPs can be incorporated into risk prediction models to help identify high-risk patients who might benefit from low-dose CT screening, potentially enhancing early diagnosis and survival. However, population-specific validation, SNP panel standardization, and integration into clinical practice still need attention. This comprehensive review offers details on SNPs linked to cancer, including their identification, function, and effect on cellular activity. SNPs appropriate for lung cancer diagnostic panels were also found and highlighted. We specifically looked at appropriate SNPs based on the genetic profile of under-represented groups, such as the Middle East, and future research in this field will result in the development of more precise panels for the diagnosis of this kind of cancer. In the end, SNPs are promising non-invasive and affordable biomarkers for early detection, personalized therapy treatments, and individualized cancer risk assessment.
- Results: Lung cancer continues to be a major cause of cancer-related death globally, and late-stage diagnosis is the main cause of the poor prognosis. Even though imaging and molecular medicines have significantly improved patient outcomes, early identification remains an important factor for improving survival. The genetic factors involved in lung cancer, especially single-nucleotide polymorphisms (SNPs), have drawn more attention recently due to developments in molecular therapies. SNPs are seen as potential markers for diagnosis, risk prediction, prognosis, and treatment. Lung cancer, particularly the most prevalent subtype, non-small cell lung cancer (NSCLC), has been associated with several SNPs. Genetic research and GWAS have revealed these correlations. Specifically, rs8034191(CHRNA5), rs402710(CLPTM1L), rs2736100(TERT), and rs16969968(CHRNA5) have been examined and confirmed in various populations on many occasions. These variations directly impact the carcinogenesis process, as they are involved in key cellular functions such as apoptosis, telomere preservation, and nicotinic acetylcholine signaling. Different functional pathways influence SNPs and contribute to the development of cancer. For instance, SNPs rs8034191 and rs16969968 are found on chromosome 15q25 in the CHRNA5-A3-B4 gene cluster. These SNPs indirectly raise the risk of lung cancer in smokers by controlling inflammation and nicotine addiction. Furthermore, rs402710, which is found in the CLPTM1L gene, promotes anti-apoptotic signaling, which results in resistance to chemotherapy. SNPs hold clinical significance beyond early detection techniques. Validated SNPs can be incorporated into risk prediction models to help identify high-risk patients who might benefit from low-dose CT screening, potentially enhancing early diagnosis and survival. However, population-specific validation, SNP panel standardization, and integration into clinical practice still need attention. This comprehensive review offers details on SNPs linked to cancer, including their identification, function, and effect on cellular activity. SNPs appropriate for lung cancer diagnostic panels were also found and highlighted. We specifically looked at appropriate SNPs based on the genetic profile of under-represented groups, such as the Middle East, and future research in this field will result in the development of more precise panels for the diagnosis of this kind of cancer. In the end, SNPs are promising non-invasive and affordable biomarkers for early detection, personalized therapy treatments, and individualized cancer risk assessment.
- Conclusion: Lung cancer continues to be a major cause of cancer-related death globally, and late-stage diagnosis is the main cause of the poor prognosis. Even though imaging and molecular medicines have significantly improved patient outcomes, early identification remains an important factor for improving survival. The genetic factors involved in lung cancer, especially single-nucleotide polymorphisms (SNPs), have drawn more attention recently due to developments in molecular therapies. SNPs are seen as potential markers for diagnosis, risk prediction, prognosis, and treatment. Lung cancer, particularly the most prevalent subtype, non-small cell lung cancer (NSCLC), has been associated with several SNPs. Genetic research and GWAS have revealed these correlations. Specifically, rs8034191(CHRNA5), rs402710(CLPTM1L), rs2736100(TERT), and rs16969968(CHRNA5) have been examined and confirmed in various populations on many occasions. These variations directly impact the carcinogenesis process, as they are involved in key cellular functions such as apoptosis, telomere preservation, and nicotinic acetylcholine signaling. Different functional pathways influence SNPs and contribute to the development of cancer. For instance, SNPs rs8034191 and rs16969968 are found on chromosome 15q25 in the CHRNA5-A3-B4 gene cluster. These SNPs indirectly raise the risk of lung cancer in smokers by controlling inflammation and nicotine addiction. Furthermore, rs402710, which is found in the CLPTM1L gene, promotes anti-apoptotic signaling, which results in resistance to chemotherapy. SNPs hold clinical significance beyond early detection techniques. Validated SNPs can be incorporated into risk prediction models to help identify high-risk patients who might benefit from low-dose CT screening, potentially enhancing early diagnosis and survival. However, population-specific validation, SNP panel standardization, and integration into clinical practice still need attention. This comprehensive review offers details on SNPs linked to cancer, including their identification, function, and effect on cellular activity. SNPs appropriate for lung cancer diagnostic panels were also found and highlighted. We specifically looked at appropriate SNPs based on the genetic profile of under-represented groups, such as the Middle East, and future research in this field will result in the development of more precise panels for the diagnosis of this kind of cancer. In the end, SNPs are promising non-invasive and affordable biomarkers for early detection, personalized therapy treatments, and individualized cancer risk assessment.
- Keywords: Lung cancer continues to be a major cause of cancer-related death globally, and late-stage diagnosis
