Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 115482693
Gene Symbol: H3P8
H3P8
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 168400
Gene Symbol: DDX53
DDX53
0.010 GeneticVariation disease BEFREE Participants reported whether they currently had MCCs, problem drinking (defined as affirming two or more of the four CAGE screening questions), symptoms associated with depression, and other social and health measures. 27748504 2017
Entrez Id: 28956
Gene Symbol: LAMTOR2
LAMTOR2
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
0.010 GeneticVariation disease BEFREE Exon 10 M541L KIT sequence variation, which confers increased sensitivity to KIT ligand stem cell factor, was detected in the MCC-1 cell line. 21498700 2011
Entrez Id: 11102
Gene Symbol: RPP14
RPP14
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.010 GeneticVariation disease BEFREE In addition to previously identified mutations in TP53, RB1, and PIK3CA, we discovered activating mutations of oncogenes, including HRAS and loss-of-function mutations in PRUNE2 and NOTCH family genes in MCPyV-negative MCC. 26238782 2015
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
0.010 GeneticVariation disease BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328 2017
Entrez Id: 10923
Gene Symbol: SUB1
SUB1
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 6280
Gene Symbol: S100A9
S100A9
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 1757
Gene Symbol: SARDH
SARDH
0.010 GeneticVariation disease BEFREE Nodal involvement (SDH 2.7; CI 1.1-6.6) and the male gender were associated with higher MCC related death (SDH 3.1; CI 1.2-7.9) CONCLUSION: In a large cohort a low MCC related death, in the presence of a low OS was seen. 29790179 2018
Entrez Id: 100307118
Gene Symbol: BCC1
BCC1
0.010 GeneticVariation disease BEFREE In a conventional PCR analysis, MCPyV DNA was detected in MCC (9 cases; 100%), BCC (1 case; 2%), and AK (3 cases; 6%). 22768181 2012
Entrez Id: 51639
Gene Symbol: SF3B6
SF3B6
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 10993
Gene Symbol: SDS
SDS
0.010 GeneticVariation disease BEFREE Nodal involvement (SDH 2.7; CI 1.1-6.6) and the male gender were associated with higher MCC related death (SDH 3.1; CI 1.2-7.9) CONCLUSION: In a large cohort a low MCC related death, in the presence of a low OS was seen. 29790179 2018
Entrez Id: 158471
Gene Symbol: PRUNE2
PRUNE2
0.010 GeneticVariation disease BEFREE In addition to previously identified mutations in TP53, RB1, and PIK3CA, we discovered activating mutations of oncogenes, including HRAS and loss-of-function mutations in PRUNE2 and NOTCH family genes in MCPyV-negative MCC. 26238782 2015
Entrez Id: 5793
Gene Symbol: PTPRG
PTPRG
0.010 GeneticVariation disease BEFREE It has recently been reported that integration of a Merkel cell polyomavirus (MCPyV) in receptor tyrosine phosphates type G (PTPRG) gene occurs in MCC, and that viral infections are associated with epigenetic silencing of tumor suppressor genes (TSG) in cancer. 19326371 2009
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.010 GeneticVariation disease BEFREE A total of 263 women with untreated characterised KRAS exon 2 wild-type MCC and stable disease or better after 6-cycle CAPOXB induction treatment were included for the evaluation of efficacy and safety (CAP-B-treated cohort, n = 130 and CAP-treated cohort, n = 133). 30683047 2019
Entrez Id: 10263
Gene Symbol: CDK2AP2
CDK2AP2
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
Entrez Id: 6652
Gene Symbol: SORD
SORD
0.010 GeneticVariation disease BEFREE Nodal involvement (SDH 2.7; CI 1.1-6.6) and the male gender were associated with higher MCC related death (SDH 3.1; CI 1.2-7.9) CONCLUSION: In a large cohort a low MCC related death, in the presence of a low OS was seen. 29790179 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
0.300 Biomarker disease CTD_human BET protein inhibitor JQ1 attenuates Myc-amplified MCC tumor growth in vivo. 25277525 2014
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.100 Biomarker disease BEFREE Our findings suggest that HDACi may be useful to overcome HLA class-I downregulation as a resistance mechanism against anti-PD-1/PD-L1 antibodies in MCC patients. 30993371 2019
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.100 Biomarker disease BEFREE On March 23, 2017 the US Food and Drug Administration granted accelerated approval for avelumab, an anti-PD-L1 monoclonal antibody, for the treatment of metastatic MCC on the basis of the JAVELIN Merkel 200 trial. 29172995 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 Biomarker disease BEFREE Immunolabelling of p53 (68.6 +/- 26.2 vs. 58.4 +/- 28.8; P = 0.46) and p21 (40.1 +/- 38.8 vs. 25.8 +/- 16.1; P = 0.35) was relatively high but not significantly increased in MCC when compared to MM. 19453809 2009
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.100 Biomarker disease BEFREE Avelumab is a human IgG1 antibody directed against PD-L1 approved for Merkel cell carcinoma and urothelial carcinoma that could be useful also for the treatment of GC. 31060469 2019
Entrez Id: 54474
Gene Symbol: KRT20
KRT20
0.100 Biomarker disease BEFREE Study of EWS/FLI-1 rearrangement in 18 cases of CK20+/CM2B4+ Merkel cell carcinoma using FISH and correlation to the differential diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor. 23165331 2013
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.100 Biomarker disease BEFREE PD-1/PD-L1 inhibitors are considered the standard of care in advanced MCC and are currently being investigated in the adjuvant and neoadjuvant settings. 30784027 2019