The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias
Abstract
Mutations of p53 and PTCH gene, two candidate tumor suppressor genes for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population. p53 and PTCH mutations were detected at a frequency of 33 and 40%, respectively, and the mutations were predominantly UV-signature transition, C-->T transitions at dipyrimidine sites and CC-->TT tandem mutations. In both genes, the most common mutations were missense mutations resulting in amino acid substitution, which is different than the results from Caucasian BCCs where mutations are frequently predicted to make truncated or absent proteins. All mutations, except for one, occurred on the nontranscribed strand where is little efficient removal of UV-induced pyrimidine dimers relative to the transcribed strand. Loss of heterozygocity (LOH) of 9q22 for PTCH loci was found in eight of 15 informative cases of BCCs (53%), but none of the cases were informative for LOH of 17p13 for p53 loci. Not only do our data indicate the key role played by p53 and PTCH in the development of BCCs, these findings also suggest that UVB may significantly contribute to BCC tumorigenesis. Moreover, molecular epidemiology composed of incidence of p53 and PTCH mutations, difference in the type of mutation and repair bias of UV-induced DNA lesions might affect the distinct features of BCCs between different racial population.
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“with the observation of UVB-induced C fi T transition and CC fi TT mutations at bipyrimidine sites in p53 genes of skin tumors (8,15).”
From Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions† (2012) · cites this paper as [15]
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Metadata
- Authors
- Kim, M.
- Affiliations
- Catholic University of Korea (KR)
- Corresponding author
- Kim, M
- ORCID
- Kim, M
- Venue
- Journal of Dermatological Science
- Publisher
- Elsevier BV
- Published
- 2002-05-01
- Volume
- 29
- Issue
- 1
- Pages
- 1-9
- ISSN
- 0923-1811 (ISSN-L)
- OpenAlex
- W1970842651
- Cited by
- 116
- References
- 25
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 5 · 2017: 9 · 2016: 6 · 2015: 7 · 2014: 8 · 2013: 4 · 2012: 7
- FWCI
- 4.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Dermatological Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Dermatology › Nonmelanoma Skin Cancer Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Health Sciences › Medicine › Dermatology › Cancer and Skin Lesions
- Keywords
- basal cell carcinoma, TP53 mutation, PTCH mutations, strand bias, UV-B radiation, loss of heterozygosity, 17p13, missense mutations, pyrimidine dimer repair, tumor suppressor, sun-exposed skin, molecular epidemiology, racial differences
- MeSH terms
- Patched Receptors, Patched-1 Receptor, Aged, Aged, 80 and over, Basal Cell Carcinoma, DNA Mutational Analysis, Humans, Korea, Membrane Proteins, Middle Aged, Receptors, Cell Surface, Skin Neoplasms, Ultraviolet Rays, Tumor Suppressor Protein p53, Mutation, Missense, Asian People
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