Cell
Volume 69, Issue 1, 3 April 1992, Pages 111-117
ArticleDevelopmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
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Cited by (389)
Hedgehog Signalling in Development and Disease
2022, Encyclopedia of Cell Biology: Volume 1-6, Second EditionEmerging trends in the treatment of advanced basal cell carcinoma
2018, Cancer Treatment ReviewsCitation Excerpt :In contrast, aberrant Hh pathway activation in BCC (as well as many medulloblastomas and rhabdomyosarcomas) does not require Hh ligand expression but instead depends on pathway-activating mutations in Hh pathway components such as SMO or PTCH1 [32,35]. BCC was first linked to aberrant Hh pathway signaling when mutations in the PTCH1 gene were identified as the driving mutation in patients with Gorlin syndrome, who often have numerous BCCs [36–39]. Subsequently, most spontaneous BCCs were found to have mutations in components of the Hh pathway that promote aberrant signaling, including inactivating mutations in PTCH1 in ≈ 85–90% and activating mutations in SMO in ≈ 10% [35,40,41].
Basal Cell Skin Cancer, Version 2.2024
2023, JNCCN Journal of the National Comprehensive Cancer Network
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