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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UVB induces C to T transitions and CC to TT mutations at bipyrimidine sites in p53 genes of skin tumors.
“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<sup>†</sup> (2012) · cites this paper as [15]
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Hedgehog-Gli signaling in basal cell carcinoma and other skin cancers: prospects for therapy
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Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes.
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CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Kanwar, A. J., & Sandhu, K. (2005) · Pediatric Dermatology · doi:10.1111/j.1525-1470.2005.22124.x · Cited by 13 · see citing works
Basal cell carcinomas: molecular abnormalities and molecularly targeted therapies
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Non-Melanoma Skin Cancers at Sites of Previous Frostbite: Case Report and Review
Imanbayev, K., Макишев, А. К., Жагипаров, М. К., & McLoone, P. (2018) · Case Reports in Dermatology · doi:10.1159/000486477 · Cited by 11 · see citing works
Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
Gupta, E., Guthrie, K. J., Krishna, M., Asmann, Y. W., Parker, A. S., & Joseph, R. W. (2015) · Rare Tumors · doi:10.4081/rt.2015.5719 · Cited by 10 · see citing works
Das Basalzellkarzinom und seine seltenen Formvarianten
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“Melano-cortin receptor 1 (MCR1), B-Raf, cyclin-dependent kinase inhibitor 2A (CDKN2A), and genetic repair factors (such as UV-specific endonuclease in xeroderma pigmentosum) are among the genes linked to melanoma [9, 10].”
Signaling Pathways and Therapeutic Strategies in Advanced Basal Cell Carcinoma
Vallini, G., Calabrese, L., Canino, C., Trovato, E., Gentileschi, S., Rubegni, P., & Tognetti, L. (2023) · Cells · doi:10.3390/cells12212534 · Cited by 9 · see citing works
“Typical UV-signature mutations, C → T transition at dipyrimidine sites and CC → TT tandem mutation, of p53 and PTCH genes are commonly detected in BCC [16–18].”
BackgroundFrequency and features ofTP53mutation in 30 Chinese patients with sporadic basal cell carcinoma
Wang, Y. M., Huang, Y. S., H., Z., Bu, D., Wang, Y., Tu, P., & Li, H. (2014) · Clinical and Experimental Dermatology · doi:10.1111/ced.12411 · Cited by 9 · see citing works
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“9,28 Although TP53 C > T transitions were identi fi ed in conventional BCC in our cohort, TP53 mutations in sun-protected BCC included non-C > T single nucleotide polymorphisms leading to loss of function, also supporting a non-UV-mediated mechanism of mutagenesis.”
The p53 Signalling Pathway in Cutaneous Basal Cell Carcinoma: An Immunohistochemical Description
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“Although the relevance of p53 mutations for tumorigenesis of BCC is still not completely understood (2, 3), the relatively high rate of p53 UVB signature mutations in BCC implies that UVB may play a role in the subgroup of BCCs harbouring p53 mutations (4).”
BackgroundNarbutt, J., Norval, M., Slowik-Rylska, M., Jochymski, C., Kozłowski, W., Sysa‐Jędrzejowska, A., Rogowski-Tylman, M., & Lesiak, A. (2009) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2009.09380.x · Cited by 8 · see citing works
Delayed diagnosis of angiotensin-converting enzyme (ACE) inhibitor induced angioedema and urticaria
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Bang, B. K., Baadsgaard, O., Skov, L., & Jäättelä, M. (2004) · Archives of Dermatological Research · doi:10.1007/s00403-004-0473-4 · Cited by 8 · see citing works
“The most carcinogenic wavelength of sunlight that reaches the surface of the earth is UV radiation in the middle wavelength range (UVB) from 290 to 320 nm. UVB irradiation induces DNA lesions, mainly 6–4 photoproducts and cyclobutane pyrimidine dimers, in the keratinocytes [2, 3]. Upon replication such DNA lesions can…”
Basalioma: epidemiology, etiology, pathogenesis and clinical picture (part 1)
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Malignant skin tumors: Kids are not just little people
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Basal cell carcinoma in a dog with chronic solar dermatitis
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“frequent mutation in 30-40% of sporadic Bcc cases (16-18), and mutations of genes such as p53, SMo and suppressor of fused protein also occur in Bcc (5).”
The anaplastic lymphoma kinase as an oncogene in solid tumors
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Etiology and pathogenesis of basal cell carcinoma
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Treatment of Basal Cell Carcinoma by Topical 25% Podophyllin Solution
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“The majority of sporadic cases are induced by sunlight, specifically ultraviolet-B rays [5].”
BackgroundMolecular Pathogenesis of Basal Cell Carcinoma
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“PTCH1 mutations were also detected in 30% to 40% of sporadic BCC [69,70]; in”
BackgroundMolecular Mechanisms and Biomarkers of Skin Photocarcinogenesis
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“However, patient treatment and prognostication are frequently complicated by the fact that more than 30% of BCCs have a mixed pathology that combines both less aggressive and more aggressive subtypes within the same lesion [21].”
BackgroundInfluentialSkin cancer - an overview for dentists
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Sozialrechtliche Bewertung UV-induzierter Hauttumoren
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Somatic Mutations in TP53 Gene in Colombian Patients With Non-melanoma Skin Cancer
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Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans
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“Meanwhile, inactivating mutations of the TP53 tumor suppressor gene have been reported in approximately half of sporadic BCCs [5,7,9,10,12–17].”
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“However, a paucity of studies based on data from non-Caucasian deals with the genetic associations with BCC risk (Cho et al., 2001; Kim et al., 2002; Kang et al., 2007).”
BackgroundMORFOLOŠKO-KLINIČKE KARAKTERISTIKE KARCINOMA KOŽE GLAVE EPIDERMALNOG POREKLA
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Clinicopathological Pattern of Basal Cell Carcinoma among Sudanese Patients
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- 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 › Epidemiology › 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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