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The hedgehog pathway and basal cell carcinomas.

A E Bale¹, K P Yu

¹Department of Genetics, SHM I-321, Yale University School of Medicine, Box 208005, 333 Cedar Street, New Haven, CT 06520-8005, USA. allen.bale@yale.edu

Human Molecular Genetics

|March 21, 2001

Summary

Mutations in the patched gene disrupt the hedgehog signaling pathway, leading to basal cell carcinoma (BCC) and Gorlin syndrome. Understanding this pathway may enable new skin cancer therapies.

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Area of Science:

Developmental Biology
Cancer Genetics
Molecular Oncology

Background:

Conservation of developmental pathways from Drosophila melanogaster to vertebrates highlights their fundamental roles.
Disruption of these conserved pathways is linked to human congenital anomalies and cancer.
Basal cell carcinoma (BCC), the most common human cancer, can arise sporadically or due to hereditary predisposition like Gorlin syndrome.

Purpose of the Study:

To investigate the role of the patched gene, a homolog of a Drosophila gene, in Gorlin syndrome and sporadic BCC.
To elucidate the function of the patched gene within the hedgehog signaling pathway.
To explore the potential for targeted therapies based on this pathway.

Main Methods:

Genetic studies in Drosophila melanogaster to identify conserved developmental genes.
Analysis of human patched gene homolog mutations in Gorlin syndrome and BCC.
Biochemical pathway analysis of patched gene function in hedgehog signaling.

Main Results:

The patched gene is crucial in the hedgehog signaling pathway, essential for embryonic patterning and cell fate.
Mutations in the human patched gene are identified as the cause of Gorlin syndrome.
Inactivation of the patched gene is implicated in the development of both hereditary and sporadic BCCs.

Conclusions:

The patched gene and its role in the hedgehog pathway are critical for understanding BCC development.
Targeting the patched gene's biochemical pathway offers potential for novel skin cancer treatments.
Further research into this pathway may extend therapeutic strategies to other tumor types.

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