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Association details:
Biomarker:TSC1 1907_1908del
Cancer:Bladder Cancer
Drug:everolimus (mTOR inhibitor)
Direction:Sensitive
Evidence:
Evidence Level:
Sensitive: C3 – Early Trials
New
Source:
Title:

Genome Sequencing Identifies a Basis for Everolimus Sensitivity

Excerpt:
Among confirmed coding mutations were (i) a two-base-pair deletion in the TSC1 (tuberous sclerosis complex 1) gene, resulting in a frameshift truncation (c.1907_1908del, p.Glu636fs)...Patients with TSC1-mutant tumors remained on everolimus longer than those with wild-type tumors (7.7 versus 2.0 months, P= 0.004) with a significant improvement in time to recurrence (4.1 versus 1.8 months; hazard ratio = 18.5, 95% confidence interval 2.1 to 162, P = 0.001)....These results suggest that mTORC1-directed therapies may be most effective in cancer patients whose tumors harbor TSC1 somatic mutations.
DOI:
10.1126/science.1226344
Trial ID: