MIM.601309 9q22.3 HGNC:9585
Sunday 7 March 2004
The PTCH1 gene encodes a transmembrane protein that represses transcription in specific cells of genes encoding members of the TGF-beta (TGFBs) and Wnt families of signaling proteins. The Hedgehog/PATCHED pathway regulates several genes, including TGF-â (TGFBs) and PDGFR.
constitutional mutation in
- basal cell nevus syndrome (BCNS) (MIM.109400)
- holoprosencephaly 7 (HPE7) (MIM.236100)
somatic mutations in
- sporadic basal cell carcinomas (#9620294#, #8782823#)
- trichoepithelioma (#9354420#)
- medulloblastoma (#9231911#)
PTCH1 is a tumor suppressor gene that encodes a cell-membrane protein (PATCHED), which functions as a receptor for a family of proteins called Hedgehog.
Mutations in PTCH1 are responsible for Gorlin syndrome, an inherited condition also known as nevoid basal cell carcinoma syndrome.
PTCH1 mutations are present in 20% to 50% of sporadic cases of basal cell carcinoma. About one half of such mutations are of the type caused by UV exposure.
SHH signaling pathway (Hedgehog signaling pathway)
PTCHs: PTCH1, PTCH2
Bale, A. E.; Yu, K.-P. The hedgehog pathway and basal cell carcinomas. Hum. Molec. Genet. 10: 757-762, 2001. PMID : #11257109#
Sidransky D. Is human patched the gatekeeper of common skin cancers? Nat Genet. 1996 Sep;14(1):7-8. PMID: #8782809#
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B. Br J Cancer. 2006 Aug 21;95(4):548-53. PMID: #16909134# (Free)
Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Clin Pract Oncol. 2006 Oct;3(10):575-80. PMID: #17019435#