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Article

Functional analysis of novel sonic hedgehog gene mutations identified in basal cell carcinomas from xeroderma pigmentosum patients.

Cancer research - 15 May 2004

Couvé-Privat Sophie, Le Bret Marc, Traiffort Elisabeth, Queille Sophie, Coulombe Josée, Bouadjar Bakar, Avril Marie Françoise, Ruat Martial, Sarasin Alain, Daya-Grosjean Leela

Abstract excerpt

Altered sonic hedgehog (SHH) signaling is crucial in the development of basal cell carcinomas (BCC), the most common human cancer. Mutations in SHH signal transducers, PATCHED and SMOOTHENED, have already been identified, but SHH mutations are extremely rare; only 1 was detected in 74 sporadic BCCs. We present data showing unique SHH mutations in BCCs from repair-deficient, skin cancer-prone xeroderma pigmentosum...

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Identifiers

PMID: 15150112
DOI: 10.1158/0008-5472.CAN-03-4040

Genes

SHH

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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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