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Article

De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.

American journal of medical genetics - 19 Dec 1997

Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G

Abstract excerpt

The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome. In addition, it has been possible to determine, through molecular analysis o...

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PMID: 9415689

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9415689-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.PMID 9415689Read ↗

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.Semantic proximity Read ↗

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

New mutations and an updated database for the patched-1 (PTCH1) gene.Semantic proximity Read ↗

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.Semantic proximity Read ↗

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.Semantic proximity Read ↗

Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.Semantic proximity Read ↗

Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus SyndromeSemantic proximity Read ↗

UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients.Semantic proximity Read ↗

Basal cell nevus syndrome.Semantic proximity Read ↗

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

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