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    Association details:
    Biomarker:TSC2 Q1178X
    Cancer:Thyroid Gland Anaplastic Carcinoma
    Drug:everolimus (mTOR inhibitor)
    Direction:Resistant
    Evidence:
    Evidence Level:
    Resistant: C4 – Case Studies
    New
    Source:
    N Engl J Med
    Title:

    Beneficial Effects of the mTOR Inhibitor Everolimus in Patients with Advanced Medullary Thyroid Carcinoma: Subgroup Results of a Phase II Trial

    Excerpt:
    TSC2 Q1178⋆ has been identified twice in the germline of patients...Whole-exome sequencing of the tumor tissue before treatment and after the development of resistance to everolimus revealed a TSC2 nonsense mutation in both tumors (Panel A) and an F2108L mutation in MTOR in the resistant tumor that was undetectable in the pretreatment tumor (Panel B).
    DOI:
    10.1056/NEJMoa1403352