SomamiR DB 2.0
Somatic mutations altering microRNA-ceRNA interactions
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Total 16 records

Experimental evidence linking mutations in miRNAs with cancer

miRNA Mutation Region Chromosome Location Alleles MAF Disease P-Value Experimental targets Experiment PubMed
hsa-miR-128b 13 bp from 3' end of mature miR-128b Pri-miRNA A>G Acute lymphocytic leukemia Northern blot 20237425
Association Summary: Novel point mutation identified in RS4;11, a cell line derived from an MLL-AF4 ALL patient; The mutation was also found in two out of six primary MLL-rearranged ALL patient samples
Experiment Summary: The A>G mutation greatly reduces the extent of miR-128b processing and the expression of mature miR-128b
hsa-miR-146a rs2910164 Pre-miRNA, stem region chr5 159912418 G>C C=0.381 Breast/ovarian cancer 0.029, 0.014 BRCA1 RT-PCR; Luciferase reporter assay 18660546
Association Summary: Breast and ovarian cancer patients with at least one miR-146a variant (C) allele were diagnosed at an earlier age than women without any variant allele
Experiment Summary: C allele increased production of miR-146a compared with reference; Binding of miR-146a to BRCA1 was significantly stronger in variant C than reference G, but difference in binding to BRCA2 was not impacted by variation
hsa-miR-146a rs2910164 Pre-miRNA, stem region chr5 159912418 C>G C=0.381 Cervical cancer RT-PCR 21529907
Association Summary: GG genotype had increased risk for cervical cancer than those carrying the CG/CC genotypes
Experiment Summary: GG genotype had reduced miR-146a expression
hsa-miR-146a rs2910164 Pre-miRNA, stem region chr5 159912418 C>G C=0.381 Hepatocellular carcinoma 0.034 Northern blot; Cell proliferation and colony formation 18711148
Association Summary: GG genotype in male individuals was 2-fold more susceptible to HCC than those with the CC genotype
Experiment Summary: G allele had increased production of miR-146a; miR-146a promoted cell proliferation and colony formation in NIH/3T3 cell line
hsa-miR-146a rs2910164 Pre-miRNA, stem region chr5 159912418 C>G C=0.381 Papillary thyroid carcinoma 0.000007 TRAF6; IRAK1; PTC1 RT-PCR; Luciferase reporter assay 18474871
Association Summary: GC heterozygous state was associated with an increased risk for papillary thyroid carcinoma, while both homozygotes were protective; 4.7% of tumors had somatic mutations at the SNP location
Experiment Summary: C allele reduces expression of pre- and mature miR-146a; Reduction of expression in luciferase reporter vectors containing 3' UTRs of target genes was much stronger in the presence of G allele than C allele
hsa-miR-146a rs2910164 Pre-miRNA, stem region chr5 159912418 C>G C=0.381 Prostate cancer 0.01 RT-PCR 19902466
Association Summary: CC homozygotes had a 0.65 fold reduced risk for prostate cancer compared to GG/GC genotypes, and C allele had a lower prevalence of prostate cancer
Experiment Summary: CC genotype had significantly decreased miRNA levels compared to GG/GC genotype
hsa-miR-146a rs2910164 Pre-miRNA chr5 159912418 C>G C=0.381 Thyroid cancer RT-PCR; Microarrays 19164563
Association Summary:
Experiment Summary: GC heterozygoes differ form both GG and CC homozygotes and produce 3 mature miRNAs (miR-146a, miR-146a*G, miR-146a*C); miR-146a* is overexpressed in tumors; The transcriptomes of GC and GG samples differed in the expression of hundreds of genes
hsa-miR-17 C>T Pre-miRNA C>T Breast cancer RT-PCR 19048628
Association Summary: A allele identified in sequencing of breast cancer patients and was only observed in noncarriers of BRCA1/2 mutations
Experiment Summary: Expression levels of mature miR-17 were significantly higher with the C allele than the T allele
hsa-miR-191 chr3:g.49058128C>A Pre-miRNA chr3 49058128 C>A Ovarian cancer MLH1; FANCD2 Expression; RT-PCR 20167074
Association Summary: Polymorphism identified in screen for variants in miRNA genes in familial ovarian cancer
Experiment Summary: Expression levels of mature miR-191 were significantly higher than those of the A allele measured by Taqman based microRNA assays; SKOV-3 cells transfected with miR-191 expression vector had significantly lower MLH1 and FANCD2 expression
hsa-miR-196a2 rs11614913 Pre-miRNA chr12 54385599 C>T T=0.388 Breast cancer 0.002 TP63; GADD45G; INHBB; S100A8; S100A9 Expression; PCR 19567675
Association Summary: T allele associated with reduced breast cancer risk
Experiment Summary: Mature miR-196a levels were increased significantly when transfected with pre-miR-196a vector with C allele; Expression microarray analysis found that the expression of 684 transcripts was altered by miR-196a with C allele, compared to only 263 with T allele; Quantitative PCR was used to validate differential regulation of cancer-related genes
hsa-miR-196a2 rs11614913 Pre-miRNA chr12 54385599 C>T T=0.388 Colorectal cancer MiRNA expression 21565628
Association Summary: Frequency of CC genotype was higher in CRC patients than controls, but no significant association between the polymorphism and CRC progression was found
Experiment Summary: C allele was associated with a significantly increased level of mature miR-196a
hsa-miR-196a2 rs11614913 Pre-miRNA chr12 54385599 C>T T=0.388 Non-small cell lung cancer LSP1 RT-PCR; Luciferase reporter assay 18521189
Association Summary: Survival in NSCLC patients was significantly decreased with the CC genotype
Experiment Summary: CC genotype was associated with increase in mature miR-196a expression but not expression of precursor; C allele reduced expression of luciferase reporter containing 3'UTR of LSP1 to a greater extent than the T allele
hsa-miR-196a2 rs11614913 Pre-miRNA chr12 54385599 C>T T=0.388 Non-small cell lung cancer Expression 21902575
Association Summary: Did not find any association between genotype and risk of NSCLC
Experiment Summary: Significant association between miR-196a2 CC genotype and high expression, and TT genotype and low expression
hsa-miR-200b rs61768479 Promotor of miR-200b-a-429 cluster chr1 1098358 C>G G=0.022 Non-small cell lung cancer 0.01 Luciferase reporter activity 21686129
Association Summary: G allele was associated with a 50% reduced risk for NSCLC
Experiment Summary: Allele specific expression revealed that the G allele expressed 30% less primary miR transcript compared with the C allele; G allele disrupts binding of NKX2.5 promoter
hsa-miR-27a rs895819 Pre-miRNA chr19 13947292 A>C C=0.381 Gastric cancer 0.019 ZBTB10 RT-PCR 20666778
Association Summary: AG and GG genotypes had a significantly increased risk of gastric cancer compared to AA genotypes
Experiment Summary: G allele increased mature miR-27a; Expression of ZBTB10 was inversely correlated with expression of miR-27a and was significantly lower in samples with G genotype
hsa-miR-30c-1 Pre-miRNA G>A Breast cancer RT-PCR 19048628
Association Summary: A allele identified in sequencing of breast cancer patients and was only observed in noncarriers of BRCA1/2 mutations
Experiment Summary: Expression levels of mature miR-30c-1 were over 3 times higher in A allele than G allele