Related Experiment Video
Updated: Jun 9, 2026

Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics
Julie K Iwasaki1, Divya Srivastava, Ronald L Moy
1Department of Dermatology, Henry Ford Health System, Detroit, Michigan 48202, USA.
Abstract:
Mutations in the sonic hedgehog signaling pathway play a key role in the development of basal cell carcinomas. Specifically, mutations in the PTCH1 (also known as PTCH or PTC1) and SMO genes cause tumor formation through constitutive activation of the pathway. Misregulation of the pathway has also been implicated in the nevoid basal cell carcinoma syndrome and other tumors. Understanding the function of the sonic hedgehog pathway has led to novel strategies for treatment. In this review we highlight the role of the pathway in the pathogenesis of basal cell carcinoma and review potential targeted therapies.
Insights
Mutations in the sonic hedgehog pathway drive basal cell carcinoma development. Understanding this pathway offers new targeted treatment strategies for this common skin cancer.
Area of Science:
- Oncology
- Molecular Biology
- Dermatology
Background:
- The sonic hedgehog signaling pathway is crucial for embryonic development.
- Aberrant activation of this pathway is linked to various cancers, including basal cell carcinoma.
- Mutations in PTCH1 and SMO genes are primary drivers of basal cell carcinoma pathogenesis.
Purpose of the Study:
- To review the role of the sonic hedgehog pathway in basal cell carcinoma development.
- To discuss the implications of pathway misregulation in related syndromes and tumors.
- To highlight novel targeted therapeutic strategies for basal cell carcinoma.
Main Methods:
- Literature review of studies on sonic hedgehog signaling in basal cell carcinoma.
- Analysis of genetic mutations (PTCH1, SMO) and their functional consequences.
- Synthesis of current understanding of pathway activation and therapeutic targets.
Main Results:
- Constitutive activation of the sonic hedgehog pathway, driven by PTCH1 and SMO mutations, leads to basal cell carcinoma.
- Pathway dysregulation is implicated in nevoid basal cell carcinoma syndrome.
- Targeted therapies aimed at inhibiting the sonic hedgehog pathway show promise.
Conclusions:
- The sonic hedgehog pathway is a critical determinant in basal cell carcinoma pathogenesis.
- Targeted inhibition of this pathway represents a promising therapeutic avenue for basal cell carcinoma.
- Further research into pathway modulation could yield improved treatment outcomes.
Related Concept Videos
Targeted Cancer Therapies
There are several types of targeted therapies against specific...
Targeted Cancer Therapies
There are several types of targeted therapies against specific...
Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Mitogens and the Cell Cycle
Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...

