ArticleBritish journal of cancer2006
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.
Article in British journal of cancer, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).The British journal of dermatology · 2022Guideline
- Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.Hereditary cancer in clinical practice · 2026Article
- Development of pathological skin models: from conventional techniques to 3D bioprinting.Frontiers in bioengineering and biotechnology · 2025Review
- Novel Approaches in Non-Melanoma Skin Cancers-A Focus on Hedgehog Pathway in Basal Cell Carcinoma (BCC).Cells · 2022Review
- Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.American journal of medical genetics. Part A · 2021Article
- Ocular manifestations in Gorlin-Goltz syndrome.Orphanet journal of rare diseases · 2019Article
- Nevoid Basal Cell Carcinoma Syndrome:Cells · 2019Article
- Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.Molecular genetics & genomic medicine · 2018Article
- Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years.Case reports in dentistry · 2018Article
- Antagonism between Hedgehog and Wnt signaling pathways regulates tumorigenicity.Oncology letters · 2017Article
- Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.PloS one · 2017Article
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).Head and neck pathology · 2016Review
- Basal Cell Carcinoma in Gorlin's Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?PloS one · 2015Article
- Article
- Basal cell carcinomas in gorlin syndrome: a review of 202 patients.Journal of skin cancer · 2011Article
- PTCH1 duplication in a family with microcephaly and mild developmental delay.European journal of human genetics : EJHG · 2009Article
- Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family.Annals of dermatology · 2008Article
- Nevoid basal cell carcinoma syndrome (Gorlin syndrome).Orphanet journal of rare diseases · 2008Review
- Article
- Educational Case: Squamous cell carcinoma.Academic pathologyArticle
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%. However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has been suggested that PTCH polymorphisms could predispose to multiple BCC (MBCC). In this study, we therefore performed an exhaustive analysis of PTCH (mutations detection and deletion analysis) in 17 patients with the full complement of criteria for NBCCS (14 sporadic and three familial cases), and in 48 patients suspected of having a genetic predisposition to BCC (MBCC and/or age at diagnosis < or =40 years and/or familial BCC). Eleven new germline alterations of the PTCH gene were characterised in 12 out of 17 patients harbouring the full complement of criteria for the syndrome (70%). These were frameshift mutations in five patients, nonsense mutations in five patients, a small inframe deletion in one patient, and a large germline deletion in another patient. Only one missense mutation (G774R) was found, and this was in a patient affected with MBCC, but without any other NBCCS criterion. We therefore suggest that patients harbouring the full complement of NBCCS criteria should as a priority be screened for PTCH mutations by sequencing, followed by a deletion analysis if no mutation is detected. In other clinical situations that suggest genetic predisposition to BCC, germline mutations of PTCH are not common.
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