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    BIOMARKER:

    PTCH1 deletion

    i
    Other names: PTCH1, PTC1, Patched Homolog 1, Protein Patched Homolog 1
    Entrez ID:
    5727
    Related biomarkers:
    Mutation
    Fusion
    Others
    over2years
    Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome. (PubMed, J Med Genet)
    To the best of our knowledge, this is the first report on PEComa in GGS, and this finding also raises the potential relevance of PTCH1 mutations and altered sonic hedgehog signalling in PEComa pathogenesis. The presence of the same somatic mutation in the bilateral tumours might indicate the possibility of a postzygotic somatic mutation that along with the germline mutation of the same gene could represent an intriguing genetic phenomenon (type 2 segmental mosaicism).
    Clinical • Journal
    |
    PTCH1 (Patched 1)
    |
    PTCH1 mutation • PTCH1 deletion
    over3years
    [VIRTUAL] PTCH1 mutations in high-frequency basal cell carcinoma patients without Gorlin stigmata (SID 2021)
    A genotype-first approach may help clarify the true prevalence of Gorlin syndrome in the population. In addition, the advent of genetic sequencing may facilitate a necessary expansion beyond clinical criteria in the diagnosis of Gorlin syndrome.
    Clinical
    |
    PTCH1 (Patched 1)
    |
    PTCH1 mutation • PTCH1 deletion