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 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.
Iwasaki
Julie K
JK
Department of Dermatology, Henry Ford Health System, Detroit, Michigan 48202, USA.
Srivastava
Divya
D
Moy
Ronald L
RL
Lin
Henry J
HJ
Kouba
David J
DJ
D000818:Animals; D002280:Basal Cell Carcinoma / Q000188:drug therapy / Q000235:genetics*; D015331:Cohort Studies; D004195:Disease Models, Animal; D016503:Drug Delivery Systems / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008967:Molecular Biology; D009154:Mutation; D012680:Sensitivity and Specificity; D015398:Signal Transduction / Q000187:drug effects* / Q000235:genetics; D012878:Skin Neoplasms / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome
D053823:Hedgehog Proteins