Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE GTF2IRD1 downregulated the expression of the gene encoding transforming growth factor β receptor 2 (TGFβR2), a tumor-suppressor gene in Smad4-mutated CRC. 31758608 2020
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE Compared to the 152 non-hypermutated CONs from TCGA database, SMAD4 alteration was predominant in SRC/SRCC (p = 0.045) with aberrant loss of SMAD4 expression (13/17, 76.5%) compared to the SMAD4 alterations in CON (5/15, 33.3%) (p = 0.031). 31400926 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE Loss of heterozygosity on chromosome 18 can case SMAD4-deficient CRC, which results in poorer patients' survival. 31756952 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE The aim of this study was to evaluate the clinicopathological characteristics and clinical significance of SMAD4 alteration detected with NGS in CRC. 30636020 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE Our study demonstrated a functional role of the TRIM47-SMAD4-CCL15 axis in CRC progression and suggested a potential target for CRC therapy. 30979374 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE Our study demonstrated high frequency of <i>Smad4</i> alterations with low expression of Smad4 protein identifying a subgroup of aggressive colorectal cancer to be an independent marker for poor prognosis. 31053577 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE Our data show SMAD4 loss correlates with worse clinical outcome, resistance to chemotherapy, and decreased immune infiltrate, supporting its use as a prognostic marker in patients with colorectal cancer. 30587545 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE In human clinical specimens, we found that neutrophil infiltration into the peritumoral stroma was more marked in SMAD4-negative colorectal cancer compared with that in SMAD4-positive colorectal cancer, and that both CXCL1 and CXCL8 were abundantly expressed in the tumor-infiltrating neutrophils. 30705034 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE Low expression of Smad4 was present in CRC tissues analyzed by TCGA and in four CRC cell lines, as determined by reverse transcription‑quantitative PCR (RT‑qPCR) and western blot analysis. 31485652 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE In the past two decades, multiple studies have revealed that SMAD4 loss on its own does not initiate tumor formation, but can promote tumor progression initiated by other genes, such as KRAS activation in pancreatic duct adenocarcinoma and APC inactivation in colorectal cancer. 29483830 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE Next, the prognostic value of SMAD4 mutation was validated in a separate cohort of patients with synchronous stage IV CRC who underwent systemic therapy alone. 29551247 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE MiR-146b-5p was shown to increase EMT by targeting Smad4, and the miR-146b-5p-Smad4 cascade regulated EMT in CRC. 29722931 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE MiR-190 and DPC4 expression were measured in five different CRC cell lines by quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot. 29970662 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE The expressions of FBXO32 and SMAD4 were related to clinicopathological parameters in CRC. 29465067 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE We have developed and validated for the diagnosis of inherited colorectal cancer (CRC) a massive parallel sequencing strategy based on: (i) fast capture of exonic and intronic sequences from ten genes involved in Mendelian forms of CRC (MLH1, MSH2, MSH6, PMS2, APC, MUTYH, STK11, SMAD4, BMPR1A and PTEN); (ii) sequencing on MiSeq and NextSeq 500 Illumina platforms; (iii) a bioinformatic pipeline that includes BWA-Picard-GATK (Broad Institute) and CASAVA (Illumina) in parallel for mapping and variant calling, Alamut Batch (Interactive BioSoftware) for annotation, CANOES for CNV detection and finally, chimeric reads analysis for the detection of other types of structural variants (SVs). 29967336 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE In the present study forty eight resected CRC tumor specimens were immunohistochemically examined in order to assess the expression of Smad4 and its association with E-cadherin, Snail-1, Slug, Twist-1 protein expression and with various pathological parameters. 29468299 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE To test whether dietary celastrol suppresses inflammation-driven colorectal cancer (CRC), we employed a unique model of spontaneous, inflammation-driven CRC in mice harboring a germ line deletion of the p27Kip1 gene and a T cell-specific deletion of Smad4 gene (Smad4co/co;Lck-crep27Kip1-/-or DKO), which develop severe intestinal inflammation and carcinogenesis as early as 3 months of age. 29069290 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH). 27978560 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE Among 734 patients with CRC, 90 (12%) had SMAD4 mutations according to hotspot testing. 28267766 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE The correlation of USP3, SMAD4 and miR-224 expression was further verified in CRC specimens. 28655924 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE We observed that loss of SMAD4 and PPM1A was seen in 37.8% and 7.3% of CRCs, respectively. 28601657 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer. 28545046 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 Biomarker disease BEFREE The MUTYH mutational signature reflecting persistent 8-oxoG:A mismatches occurs frequently in the APC, KRAS, PIK3CA, FAT4, TP53, FAT1, AMER1, KDM6A, SMAD4 and SMAD2 genes that are associated with CRC. 28551381 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 AlteredExpression disease BEFREE Expression of miR-34a was significantly reduced while expression of TGF-β and Smad4 was increased in CRC patients treated with OXA-based chemotherapy. 28348487 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.700 GeneticVariation disease BEFREE The frequency of genomic alterations seen in SBA demonstrated distinct differences in comparison with either colorectal cancer (APC: 26.8% [85 of 317] vs 75.9% [4823 of 6353], P < .001; and CDKN2A: 14.5% [46 of 317] vs 2.6% [165 of 6353], P < .001) or gastric carcinoma (KRAS: 53.6% [170 of 317] vs 14.2% [126 of 889], P < .001; APC: 26.8% [85 of 317] vs 7.8% [69 of 889], P < .001; and SMAD4: 17.4% [55 of 317] vs 5.2% [46 of 889], P < .001). 28617917 2017