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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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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
Delayed diagnosis of angiotensin-converting enzyme (ACE) inhibitor induced angioedema and urticaria
Bhalla, M., & Thami, G. P. (2003) · Clinical and Experimental Dermatology · doi:10.1046/j.1365-2230.2003.01274.x · Cited by 8
Bang, B. K., Baadsgaard, O., Skov, L., & Jäättelä, M. (2004) · Archives of Dermatological Research · doi:10.1007/s00403-004-0473-4 · Cited by 8
“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)
Николаевич, В. В., Sokolova, T. V., Колбина, М. С., & Sokolovskaya, A. A. (2013) · Vestnik dermatologii i venerologii · doi:10.25208/vdv556 · Cited by 7
Malignant skin tumors: Kids are not just little people
Waldman, R. A., & Grant-Kels, J. M. (2017) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2017.08.003 · Cited by 6
Genetic factors underlying basal cell carcinoma risk: a narrative review
Ju, S., Fan, W., Rokohl, A. C., Guo, Y., Kakkassery, V., & Heindl, L. M. (2021) · Frontiers of Oral and Maxillofacial Medicine · doi:10.21037/fomm-21-70 · Cited by 8
Basal cell carcinoma in a dog with chronic solar dermatitis
Saridomichelakis, M. N., Day, M. J., Apostolidis, K. N., Tsioli, V., Athanasiou, L. V., & Koutinas, A. F. (2012) · Journal of Small Animal Practice · doi:10.1111/j.1748-5827.2012.01302.x · Cited by 5
Yang, Y., Liang, Y., Zheng, Y., Tang, L., Zhou, S., & Zhu, J. (2020) · Molecular Medicine Reports · doi:10.3892/mmr.2020.10981 · Cited by 5
“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
Chiarle, R. (2011) · Frontiers in Bioscience-Scholar · doi:10.2741/440 · Cited by 5
Etiology and pathogenesis of basal cell carcinoma
Mijušković, Ž. P. (2013) · Serbian Journal of Dermatology and Venerology · doi:10.2478/sjdv-2013-0009 · Cited by 4
Treatment of Basal Cell Carcinoma by Topical 25% Podophyllin Solution
Sharquie, K. E., Noaimi, A. A., & Al-Zoubaidi, M. S. (2015) · Journal of Cosmetics Dermatological Sciences and Applications · doi:10.4236/jcdsa.2015.53023 · Cited by 4
“The majority of sporadic cases are induced by sunlight, specifically ultraviolet-B rays [5].”
BackgroundMolecular Pathogenesis of Basal Cell Carcinoma
Meyer, T. (2009) · Cancer treatment and research · doi:10.1007/978-0-387-78574-5_17 · Cited by 4
“PTCH1 mutations were also detected in 30% to 40% of sporadic BCC [69,70]; in”
BackgroundMolecular Mechanisms and Biomarkers of Skin Photocarcinogenesis
Lopez, A. T., Liu, L., & Geskin, L. J. (2018) · InTech eBooks · doi:10.5772/intechopen.70879 · Cited by 4
“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
Steel, B. J. (2014) · BDJ · doi:10.1038/sj.bdj.2014.399 · Cited by 3
Sozialrechtliche Bewertung UV-induzierter Hauttumoren
Voelter‐Mahlknecht, S., Berneburg, M., Rose, D.-M., Drexler, H., Röcken, M., Letzel, S., & Wehrmann, W. (2005) · Der Hautarzt · doi:10.1007/s00105-004-0883-4 · Cited by 3
Somatic Mutations in TP53 Gene in Colombian Patients With Non-melanoma Skin Cancer
Gutiérrez-Castañeda, L. D., Nova, J. A., & Cerezo-Cortés, M. I. (2022) · Cancer Diagnosis & Prognosis · doi:10.21873/cdp.10084 · Cited by 2
Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans
Kim, Y.-A., Myung, S., Choi, Y., Kim, J., Lee, Y., Lee, K., Lew, B., Kim, M. S., & Kwon, S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26146941 · Cited by 1
“Meanwhile, inactivating mutations of the TP53 tumor suppressor gene have been reported in approximately half of sporadic BCCs [5,7,9,10,12–17].”
Self-citation601 p53 codon 72 polymorphism in basal cell carcinoma of skin
Pezeshki, A. M., Aslani, F. S., Ghaderi, A. A., & Doroudchi, M. (2003) · European Journal of Cancer Supplements · doi:10.1016/s1359-6349(03)90633-1 · Cited by 1
Yun, B. M., Song, J.-K., & Lee, J. (2014) · Asian Pacific Journal of Cancer Prevention · doi:10.7314/apjcp.2014.15.17.7443 · Cited by 1
“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
Mijović, M., Mitić, N. R., Đerković, B., Filipović, M., Savić, S., Leštarević, S., & Ilić, A. (2014) · Praxis medica · doi:10.5937/pramed1501079m · Cited by 1
Skin cancer for dental professionals
Steel, B. J. (2014) · BDJ Team · doi:10.1038/bdjteam.2014.93 · Cited by 1
p53 Arg72Pro polymorphism and risk of basal cell carcinoma: a meta analysis.
Tian, Y., Li, L., & Yang, R. (2015) · PubMed Central · Cited by 1
Clinicopathological Pattern of Basal Cell Carcinoma among Sudanese Patients
Sulieman, T. M. E., & Husain, N. E. (2017) · Open Journal of Pathology · doi:10.4236/ojpathology.2017.74007 · Cited by 1
LAZAR, A. J. F., & Murphy, G. F. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4377-0792-2.50030-4 · Cited by 1
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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