| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Our results suggest that TERT promoter mutations play a relevant role in oral SCC as well as in cervical SCC, besides the already known effect of HPV16 E6 protein on TERT expression. | 29603728 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Sixty-three tumours were analysed.TERT promoter mutations were identified in 18 of 22 BCCs (82%), 6 of 10 SCCs (60%), 1 of 2 in situ SCCs (50%), 4 of 9 grade III conjunctival intraepithelial neoplasia (CIN III) (44%) and 0 of 20 PSCs (0%). | 26472403 | 2016 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | TERT promoter hot spot mutations are frequent in Indian cervical and oral squamous cell carcinomas. | 26700669 | 2016 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We identified TERT promoter mutations in 21 of 48 ocular surface squamous neoplasia samples (43.8%), including 4 in CIN and 17 in SCC. | 26348634 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We found that the frequencies of TERT promoter mutation among SCC of different sits are quite heterogenous: ~70% in skin SCC and UC-SqD, 16.67% in head and neck SCC, and 0% in lung and cervix SCC. | 25862495 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Five of the 24 tumors (all SCC) showed the C228T mutation in the TERT promoter. | 25823555 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We found that the activating TERT promoter mutations reported in melanoma are also frequent in squamous cell carcinoma (50%) and basal cell carcinoma, the latter including both sporadic tumors (78%) and tumors from patients with nevoid basal cell carcinoma syndrome (68%). | 24030752 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Our study shows that TERT promoter mutations with UV-signatures are frequent in non-melanoma skin cancer, being present in around 50% of basal and squamous cell carcinomas and suggests that increased expression of telomerase plays an important role in the pathogenesis of these tumors. | 24260374 | 2013 |