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    Association details:
    Biomarker:PTCH1 mutation
    Cancer:Medulloblastoma
    Drug Class:SMO protein inhibitor
    Direction:Sensitive
    Evidence:
    Evidence Level:
    Sensitive: D – Preclinical
    New
    Source:
    Cancer Cell
    Title:

    Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

    Excerpt:
    To understand the mechanism(s) of primary resistance and identify pathways cooperating with aberrant SHH signaling, we sequenced and profiled a large cohort of SHH-MBs (n = 133)…Functional assays in different SHH-MB xenograft models demonstrated that SHH-MBs harboring a PTCH1 mutation were responsive to SMO inhibition, whereas tumors harboring an SUFU mutation or MYCN amplification were primarily resistant.
    DOI:
    10.1016/j.ccr.2014.02.004