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Article

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

Journal of the American Academy of Dermatology - 1 May 2012

Iwasaki Julie K, Srivastava Divya, Moy Ronald L, Lin Henry J, Kouba David J

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20800318
DOI: 10.1016/j.jaad.2010.06.054

Genes

PTCH1
SMO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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