The DOI matches its Crossref record; 121 of the 123 references it cites were found in a registry or an index.
Understanding the Molecular Genetics of Basal Cell Carcinoma
Open accessAbstract
Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog pathway, PTCH1 and SMO, the TP53 tumor suppressor, and members of the RAS proto-oncogene family. Aberrant activation of the Hedgehog pathway represents the molecular driver in basal cell carcinoma pathogenesis, with the majority of BCCs carrying somatic point mutations, mainly ultraviolet (UV)-induced, and/or copy-loss of heterozygosis in the PTCH1 gene. Recent advances in sequencing technology allowed genome-scale approaches to mutation discovery, identifying new genes and pathways potentially involved in BCC carcinogenesis. Mutational and functional analysis suggested PTPN14 and LATS1, both effectors of the Hippo–YAP pathway, and MYCN as new BCC-associated genes. In addition, emerging reports identified frequent non-coding mutations within the regulatory promoter sequences of the TERT and DPH3-OXNAD1 genes. Thus, it is clear that a more complex genetic network of cancer-associated genes than previously hypothesized is involved in BCC carcinogenesis, with a potential impact on the development of new molecular targeted therapies. This article reviews established knowledge and new hypotheses regarding the molecular genetics of BCC pathogenesis.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Overexposure to sunlight is directly connected the with onset of skin cancers such as basal cell carcinoma (BSC) [165], squamous cell carcinoma (SCC) [166,167], and malignant melanoma (MM) [168,169].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [165]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Lane, D. P. (1992) · Nature · doi:10.1038/358015a0 · Cited by 5,138
A landscape of driver mutations in melanoma
Hodis, E., Watson, I. R., Kryukov, G. V., Arold, S. T., Imielinski, M., Theurillat, J.-P., Nickerson, E., Auclair, D., Li, L., Place, C., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.024 · Cited by 2,610
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn, H., Wicking, C., Zaphiropoulos, P. G., Gailani, M. R., Shanley, S., Chidambaram, A., Vořechovský, I., Holmberg, E., Undén, A. B., Gillies, S. A., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81268-4 · Cited by 2,018
Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
Johnson, R. L., Rothman, A., Xie, J., Goodrich, L. V., Bare, J. W., Bonifas, J. M., Quinn, A., Myers, R., Cox, D., Epstein, E. H., et al. (1996) · Science · doi:10.1126/science.272.5268.1668 · Cited by 1,856
TERT Promoter Mutations in Familial and Sporadic Melanoma
Horn, S., Figl, A., Rachakonda, P. S., Fischer, C., Sucker, A., Gast, A., Kadel, S., Moll, I., Nagore, E., Hemminki, K., et al. (2013) · Science · doi:10.1126/science.1230062 · Cited by 1,799
The mechanisms of Hedgehog signalling and its roles in development and disease
Briscoe, J., & Thérond, P. P. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3598 · Cited by 1,751
Regulation of the Hippo-YAP Pathway by G-Protein-Coupled Receptor Signaling
Yu, F.-X., Zhao, B., Panupinthu, N., Jewell, J. L., Lian, I., Wang, L. H., Zhao, J., Yuan, H., Tumaneng, K., Li, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.037 · Cited by 1,628
Liu-Chittenden, Y., Huang, B., Shim, J. S., Chen, Q., Lee, S.-J., Anders, R. A., Liu, J. O., & Pan, D. (2012) · Genes & Development · doi:10.1101/gad.192856.112 · Cited by 1,452
Patched1 Regulates Hedgehog Signaling at the Primary Cilium
Rohatgi, R., Milenkovic, L., & Scott, M. P. (2007) · Science · doi:10.1126/science.1139740 · Cited by 1,426
Activating Smoothened mutations in sporadic basal-cell carcinoma
Xie, J., Murone, M., Luoh, S.-M., Ryan, A. M., Gu, Q., Zhang, C., Bonifas, J. M., Lam, C.-W., Hynes, M., Goddard, A. D., et al. (1998) · Nature · doi:10.1038/34201 · Cited by 1,333
Flagged first, then by citations
2 of the 123 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- White, 1894, Multiple benign cystic epitheliomas, J. Cutan. Genitourin. Dis., 12, 477
- Jarisch, 1894, On the doctrine of skin tumors, Arch. Dermatol. Syphilol., 18, 162
Cited by
Sorted by citations
Items 201–232 of 232
Ye, L., Wang, L., Peng, K., Fang, O., Tian, Z., Li, C., Fu, X., Chen, Q., Chen, J., Luan, J. Y., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20444344
Ye, L., Wang, L., Peng, K., Fang, O., Tian, Z., Li, C., Fu, X., Chen, Q., Chen, J., Luan, J. Y., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20444350
Chietra, Y. A., Oley, M. H., & Dali, R. (2024) · Medical Scope Journal · doi:10.35790/msj.v7i1.54895
Study of histopathological spectrum of skin lesions at P.D.U Hospital, Rajkot
Padvi, J. J., Bhalara, R. V., & Dhruva, G. A. (2024) · Indian Journal of Pathology and Oncology · doi:10.18231/j.ijpo.2024.052
Stoyanov, K., Martínez, S. S., & Iribarren, M. (2024) · Springer eBooks · doi:10.1007/978-3-031-53888-9_62-1
BASAL CELL CARCINOMA: UPDATES AND PERSPECTIVES ON TREATMENT OPTIONS
Garcia, L., Palharini, M. E. G., Gandolfi, L. M. T., Rodrigues, M. C. D. O., Pereira, H. M., Resende, G. A., Scolari, M. E. S., de Campos, A. J. P., Richter, P. D., Ossipi, S. M., et al. (2024) · International Journal of Health Science · doi:10.22533/at.ed.15941012402125
Multiple Basal Cell Carcinomas
Zhou, Q., Zhang, Y., Zhang, S., Wang, J., Lin, L., & Xu, J. (2024) · IntechOpen eBooks · doi:10.5772/intechopen.111407
de Stadler, J. L., Ramburan, A., & Roberts, R. (2025) · International Journal of Surgical Pathology · doi:10.1177/10668969251314120
Kanwar, R., Rohan, T. Z., & Nambudiri, V. E. (2025) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2025.03.087
van Loo, E. (2025) · doi:10.26481/dis.20250409el
Fan, P., Liu, Y., Ma, T., Wang, Q., & Li, L. (2025) · Discover Oncology · doi:10.1007/s12672-025-02621-0
Infiltrative Basal Cell Carcinoma with Nodal Metastasis in a 74-year-old Female
Paulino, R. G. T., Chua, J. R., Damian, K., Geron, E. G., & Mirhan, C. V. (2025) · Philippine Journal of Pathology · doi:10.21141/pjp.2025.01
A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
Bai, A., Namazian, S., & Elliott, E. (2025) · Cureus · doi:10.7759/cureus.90808
The DNA-PKcs-primary cilia axis maintains ionizing radiation-induced senescence in tumor cells
Liu, X., Li, W., Zhang, R., Chen, J., Zhang, T., Hua, J., Wang, J., He, J., & Xie, X. (2025) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2025168 · Cited by 1
Wang, S., Li, Y., & Huang, S. (2025) · Medicine · doi:10.1097/md.0000000000044656
Adiga, U. S., Vasishta, S., Amulya, T., Govardhan, T., & Farzia, K. (2025) · Biomedical & Pharmacology Journal · doi:10.13005/bpj/3234
Beá‐Ardébol, S., Pérez-Pastor, G. M., Fernández‐de‐Misa, R., Estrada, R. B., Ruiz‐Salas, V., Flórez, Á., Arenal, M. M., González, M. J. F., Bassas, P., Toll, A., et al. (2025) · Actas Dermo-Sifiliográficas · doi:10.1016/j.ad.2025.104524
Tumor of Follicular Infundibulum Is Molecularly Distinct From Basal Cell Carcinoma
Heusinkveld, L. E., Li, Y. Y., & Russell-Goldman, E. E. (2025) · American Journal of Dermatopathology · doi:10.1097/dad.0000000000003198
Biomarkers and Targeted Therapies for Photocarcinoma
Rout, B., Maharana, S. K., Devaraj, Gomte, S. S., & Jain, A. (2026) · Springer eBooks · doi:10.1007/978-981-95-7358-5_8
Donald Barceloux MD, F., & Robert B. Palmer PhD, D. (2026) · Medical Toxicology · doi:10.1002/9781119872979.ch61
Ding, L., Wang, Z., Hou, N., Zhou, Y., Qi, H., Li, Z., Li, X., Xue, J., Song, S., Wang, Z., et al. (2026) · Chinese Medicine · doi:10.1186/s13020-026-01407-y · Cited by 1
Aydemir, A. T., Altıner, Ş., & Akay, B. N. (2026) · JDDG Journal der Deutschen Dermatologischen Gesellschaft · doi:10.1111/ddg.70191
Astuti, M. D. K., Mahati, E., Suhartono, S., Mudigdo, A., Budijitno, S., Sadhana, U., & Riwanto, I. (2026) · Al-Rafidain Journal of Medical Sciences · doi:10.54133/ajms.v10i2.2940
Depicting the Immunological Landscape of Basal Cell Carcinoma Subtypes
Dommann, I., Restivo, G., Kolm, I., Sella, F., Turko, P., Cheng, P. F., Levesque, M. P., Dommann-Scherrer, C. C., Dummer, R., & Ramelyte, E. (2026) · Journal of Cutaneous Pathology · doi:10.1111/cup.70150
Comparative Molecular Profiling of Basal Cell Carcinomas in Sun-Exposed and Anogenital Regions
Ali, A., Onur, P., Mohamed, A., Bello, S., Azad, A. K., Goldstein, D., & Hébert, T. M. (2026) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000001201
Escobar, K. M., la Hoz-Maestre, J. D., Solano, H. L., Salas-Macías, C. A., Fernández-Moreira, E., Fors, M. M., & Ballaz, S. (2026) · Cancers · doi:10.3390/cancers18142312
Güleken, Z., Uyulan, Ç., Yıldırım, H. A., demir, F., Makouei, S. T. Z., Kılıc, G., & Sarıbal, D. (2026) · Spectrochimica Acta Part A Molecular and Biomolecular Spectroscopy · doi:10.1016/j.saa.2026.128526
Aydın, E., Tokat, Ü. M., Adibi, A., Bilgiç, Ş. N., Özgü, E., Manea, A. M., & Demiray, M. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1814345
Omics-Nano-CRISPR Strategies for Combating Skin Cancer in the AI Age
Chauhan, A. S., Durgapal, S., Pandit, J., & Raghav, A. (2026) · IGI Global eBooks · doi:10.4018/979-8-3373-9715-3.ch009
Aydemir, A. T., Altıner, Ş., & Akay, B. N. (2026) · JDDG Journal der Deutschen Dermatologischen Gesellschaft · doi:10.1111/ddg.70191x
Extensive Perianal Basal Cell Carcinoma Presenting With Severe Anorectal Dysfunction
Castillo, S. A., Gutierrez-Luque, M. A., Elefteratos, J., Bao, L., Kajita, G. R., & Hertan, H. I. (2026) · ACG Case Reports Journal · doi:10.14309/crj.0000000000002361
Akar, H., Ekinci, F., Erdoğan, A. P., Şahbazlar, M., & Temız, P. (2026) · Polish Journal of Pathology · doi:10.5114/pjp/217768
Metadata
- Authors
- Pellegrini, C., Maturo, M., Di Nardo, L., Ciciarelli, V., Gutiérrez García-Rodrigo, C., & Fargnoli, M.
- Affiliations
- University of L'Aquila (IT)
- Department of Dermatology, Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, 67100 L’Aquila, Italy
- Corresponding author
- Fargnoli, Maria
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2017-11-22
- Volume
- 18
- Issue
- 11
- Pages
- 2485
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC5713451
- OpenAlex
- W2770311193
- Cited by
- 242
- References
- 123
- Citations by year
- 2026: 15 · 2025: 22 · 2024: 25 · 2023: 27 · 2022: 41 · 2021: 46 · 2020: 37 · 2019: 20 · 2018: 8
- FWCI
- 2.35
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi dell Aquila (submittedVersion, public-domain)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- PubliCatt (Università Cattolica del Sacro Cuore) (submittedVersion, other-oa)
- 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, tumor suppressor, proto-oncogenes, Hedgehog signaling, PTCH1, SMO, TP53, Ras family, UV-induced mutations, PTPN14, LATS1, Hippo signaling pathway, MYCN, TERT promoter mutation, carcinogenesis, targeted therapy
- MeSH terms
- Proto-Oncogene Mas, Animals, Basal Cell Carcinoma, Cell Transformation, Neoplastic, Humans, Mutation, Skin Neoplasms, Genetic Therapy, Signal Transduction, Biomarkers, Gene Expression Regulation, Neoplastic, Loss of Heterozygosity, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
