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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
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