The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics

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...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2012-05, Vol.66 (5), p.e167-e178
Main Authors: Iwasaki, Julie K., MD, Srivastava, Divya, MD, Moy, Ronald L., MD, Lin, Henry J., MD, Kouba, David J., MD, PhD
Format: Article
Language:English
Subjects:
Animals
basal cell
carcinoma
Carcinoma, Basal Cell - drug therapy
Carcinoma, Basal Cell - genetics
Cohort Studies
Dermatology
Disease Models, Animal
Drug Delivery Systems - methods
Female
Genetic Predisposition to Disease
Hedgehog Proteins - genetics
Humans
Male
Mice
Molecular Biology
Mutation
Sensitivity and Specificity
Signal Transduction - drug effects
Signal Transduction - genetics
Skin Neoplasms - drug therapy
Skin Neoplasms - genetics
sonic hedgehog
Treatment Outcome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0190-9622
1097-6787
DOI:10.1016/j.jaad.2010.06.054