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Article

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

Familial cancer - 1 Jan 2017

Kato Chise, Fujii Kentaro, Arai Yuto, Hatsuse Hiromi, Nagao Kazuaki, Takayama Yoshinaga, Kameyama Kouzou, Fujii Katsunori, Miyashita Toshiyuki

Abstract excerpt

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor...

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Source

Identifiers

PMID: 27561271
DOI: 10.1007/s10689-016-9924-2

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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