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Article

Genomic Stability in Syndromic Basal Cell Carcinoma.

The Journal of investigative dermatology - 1 May 2018

Chiang Audris, Jaju Prajakta D, Batra Prag, Rezaee Melika, Epstein Ervin H, Tang Jean Y, Sarin Kavita Y

Abstract excerpt

Basal cell cancers (BCCs) are characterized by upregulation of Hedgehog pathway through loss of PTCH1 or activation of SMO, and SMO inhibitors, such as vismodegib, are effective therapies for advanced BCCs. Although most BCCs are sporadic, rare individuals with basal cell nevus syndrome (BCNS) harbor germline defects in PTCH1 and develop up to hundreds of tumors that are histopathologically indistinguishable from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29111235
DOI: 10.1016/j.jid.2017.09.048

Genes

SMO
PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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