AIM: To investigate whether selected single nucleotide polymorphisms (SNPs) in miR-196a2, miR-27a and miR146a genes are associated with sporadic colorectal cancer (CRC).METHODS: In order to investigate the effect of t...AIM: To investigate whether selected single nucleotide polymorphisms (SNPs) in miR-196a2, miR-27a and miR146a genes are associated with sporadic colorectal cancer (CRC).METHODS: In order to investigate the effect of these SNPs in CRC, we performed a case-control study of 197 cases of sporadic CRC and 212 cancer-free controls originating from the Central-European Caucasian population using TaqMan Real-Time polymerase chain reaction and allelic discrimination analysis. RESULTS: The genotype and allele frequencies of SNPs were compared between the cases and the controls. None of the performed analysis showed any statistically significant results. CONCLUSION: Our data suggest a lack of association between rs11614913, rs895819 and rs2910164 and colorectal cancer risk in the Central-European Caucasian population, a population with an extremely high incidence of sporadic colorectal cancer.展开更多
Objectives:Cancer treatment relies heavily on accurate diagnosis and effective monitoring of the disease.These processes often involve invasive procedures,such as colonoscopy,to detect malignant tissues,followed by mo...Objectives:Cancer treatment relies heavily on accurate diagnosis and effective monitoring of the disease.These processes often involve invasive procedures,such as colonoscopy,to detect malignant tissues,followed by molecular analyses to determine relevant biomarkers.This study aimed to evaluate the clinical performance of droplet digital PCR(ddPCR)for detecting Kirsten Rat Sarcoma Viral Proto-Oncogene(KRAS),Neuroblastoma RAS Viral Oncogene Homolog(NRAS),and B-Raf Murine Sarcoma Viral Oncogene Homolog B(BRAF)mutations in circulating tumor DNA(ctDNA)from colorectal cancer patients using liquid biopsy.Methods:ctDNA was isolated from colorectal cancer(CRC)patients(n=110)and analyzed for KRAS,BRAF,and NRAS mutations.The ctDNA obtained through liquid biopsy was analyzed using ddPCR,and the findings were compared with sequencing data from tumor DNA archived in formalin-fixed paraffin-embedded(FFPE)blocks.Results:For KRAS mutations,ddPCR achieved a sensitivity of 72.0%and a specificity of 71.4%.However,when pooling all target mutations(KRAS,NRAS and BRAF),the overall sensitivity and specificity were lower,at 48.3%and 51.1%,respectively.Conclusion:The results of this study indicate that the ddPCR analysis of ctDNA may provide complementary information for the molecular diagnosis of CRC patients.展开更多
基金Supported by Czech Ministry of Health, No. NS 10352-3/2009,NS/9814 and project No. MZ0MOU2005the Ministry of Education, Youth and Sports for the project BBMRI CZ, No.LM2010004the project ‘‘CEITEC-Central European Institute of Technology’’, No. CZ.1.05/1.1.00/02.0068
文摘AIM: To investigate whether selected single nucleotide polymorphisms (SNPs) in miR-196a2, miR-27a and miR146a genes are associated with sporadic colorectal cancer (CRC).METHODS: In order to investigate the effect of these SNPs in CRC, we performed a case-control study of 197 cases of sporadic CRC and 212 cancer-free controls originating from the Central-European Caucasian population using TaqMan Real-Time polymerase chain reaction and allelic discrimination analysis. RESULTS: The genotype and allele frequencies of SNPs were compared between the cases and the controls. None of the performed analysis showed any statistically significant results. CONCLUSION: Our data suggest a lack of association between rs11614913, rs895819 and rs2910164 and colorectal cancer risk in the Central-European Caucasian population, a population with an extremely high incidence of sporadic colorectal cancer.
基金funded by the Ministry of Health of the Czech Republic—conceptual development of research organization(MMCI,00209805)Czech Science Foundation(No.25-15990S)+1 种基金the project 7D241003 EUREKA EUROSTARS35897,project SALVAGE(P JAC,reg.No.CZ.02.01.01/00/22_008/0004644)—funded by the European Unionby the State Budget of the Czech Republic,and by the LRI project BBMRI.cz(Nos.LM2023033 and CZ.02.1.01/0.0/0.0/16_013/0001674.).
文摘Objectives:Cancer treatment relies heavily on accurate diagnosis and effective monitoring of the disease.These processes often involve invasive procedures,such as colonoscopy,to detect malignant tissues,followed by molecular analyses to determine relevant biomarkers.This study aimed to evaluate the clinical performance of droplet digital PCR(ddPCR)for detecting Kirsten Rat Sarcoma Viral Proto-Oncogene(KRAS),Neuroblastoma RAS Viral Oncogene Homolog(NRAS),and B-Raf Murine Sarcoma Viral Oncogene Homolog B(BRAF)mutations in circulating tumor DNA(ctDNA)from colorectal cancer patients using liquid biopsy.Methods:ctDNA was isolated from colorectal cancer(CRC)patients(n=110)and analyzed for KRAS,BRAF,and NRAS mutations.The ctDNA obtained through liquid biopsy was analyzed using ddPCR,and the findings were compared with sequencing data from tumor DNA archived in formalin-fixed paraffin-embedded(FFPE)blocks.Results:For KRAS mutations,ddPCR achieved a sensitivity of 72.0%and a specificity of 71.4%.However,when pooling all target mutations(KRAS,NRAS and BRAF),the overall sensitivity and specificity were lower,at 48.3%and 51.1%,respectively.Conclusion:The results of this study indicate that the ddPCR analysis of ctDNA may provide complementary information for the molecular diagnosis of CRC patients.
