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variant

C228T

· 6 retained evidence mentions

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
variantC228T“No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study.”0.82literature_variant_regex_v2
variantC228T“Other mutations included: 1/78 (1.3%) successfully amplified tumor samples with TERT C228T; 2/79 (2.5%) NRAS 61 (c.181C>A and c.182A>G); 1/73 (1.4%) PIK3CA exon 9 (c.1589A>G and c.1598C>T in one tumor); 1/79 (1.3%) PIK3CA exon 20 (c.2951G>A); and 1/74 (1.4%) PTEN exon 5 (c.295G>A).”0.82literature_variant_regex_v2
variantC228T“Telomerase reverse transcriptase (TERT) overexpression is one of the hallmarks for cancer, and activation through promoter mutation C228T and C250T has been reported in variety of tumors and often shown to be associated with aggressive tumors.”0.82literature_variant_regex_v2
variantC228T“RESULTS: Only one case of pediatric TC was found to harbor the C228T TERT promoter mutation (1.8%).”0.82literature_variant_regex_v2
variantC228T“Two mutations (C228T and C250T) in the promoter region of the telomerase reverse transcriptase (TERT) have recently been described in different types of cancer including follicular cell-derived thyroid cancer (TC).”0.82literature_variant_regex_v2
variantC228T“Telomerase reverse transcriptase (TERT) promoter mutations C228T and C250T have recently been described in follicular cell-derived thyroid cancer (TC) in patients from North America and Europe.”0.82literature_variant_regex_v2