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The Hedgehog signalling pathway and cancer
1Breast Cancer Research Unit, Clinical Sciences Building, Glenfield Hospital, Groby Road, Leicester, LE3 9QP, UK. gss4@leicester.ac.uk
The Journal of Pathology
|March 29, 2001
Summary
Mutations in the Patched gene, a component of the Hedgehog signalling pathway, are linked to Gorlin's syndrome and basal cell carcinomas (BCCs). This pathway
Area of Science:
- Developmental Biology
- Oncology
- Genetics
Background:
- The Hedgehog signalling pathway is crucial for embryonic development and evolutionarily conserved.
- Patched (PTCH) gene mutations are implicated in Gorlin's syndrome, characterized by multiple basal cell carcinomas (BCCs).
- PTCH gene mutations also occur in sporadic BCCs and other associated tumors.
Purpose of the Study:
- To investigate the role of Patched gene mutations in the Hedgehog pathway in the development of basal cell carcinomas.
- To explore the mechanism by which Patched gene alterations contribute to tumor development and characteristics.
Main Methods:
- Review of existing literature on Hedgehog pathway function.
- Analysis of genetic mutations in Patched in Gorlin's syndrome and sporadic BCCs.
- Discussion of pathway deregulation in cancer.
Main Results:
- Inherited PTCH mutations are the basis for Gorlin's syndrome.
- Sporadic mutations in PTCH are found in sporadic BCCs and other tumors.
- BCC exhibits aggressive local invasion, suggesting Hedgehog pathway involvement.
Conclusions:
- Abnormalities in the Hedgehog pathway, driven by Patched gene mutations, likely account for the aggressive local invasion characteristic of BCC.
- Further research is needed to elucidate the precise mechanisms of tumorigenesis driven by Patched mutations.