ArticleScientific reports2021
Molecular alterations in basal cell carcinoma subtypes.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 34 citations in OpenAlex.
- Transforming Outcomes in Advanced Basal Cell Carcinoma: The Evolving Role of Systemic Therapy.American journal of clinical dermatology · 2026Review
- Metastatic Basal Cell Carcinoma With Unusual Molecular Genetics Findings.Clinical case reports · 2026Article
- Does Basal Cell Carcinoma Arise from a Precursor Lesion?The Journal of investigative dermatology · 2026Review
- HOXB4 Promotes Bladder Cancer Progression in Part Through Transcriptional Activation of Smoothened.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Aberrant Activation of the Hedgehog Pathway in Cutaneous Melanoma: Therapeutic Potential of Pharmacological Inhibitors.International journal of molecular sciences · 2026Article
- Case Report: High TMB fails to predict immunotherapy response inFrontiers in immunology · 2026Article
- Resistance to SMO Inhibitors in Advanced Basal Cell Carcinoma: A Case Highlighting the Role of Molecular Tumor Profiling.International journal of molecular sciences · 2025Article
- Differential Expression of Galectin-3, Caspase-1, and Phosphorylated P53: Diagnostic Biomarkers for Basal Cell Carcinoma: A Case-Control Study.Health science reports · 2025Article
- Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.International journal of molecular sciences · 2025Article
- High-Frequency Basal Cell Carcinoma: Demographic, Clinical, and Histopathological Features in a Belgian Cohort.Journal of clinical medicine · 2025Article
- Basal Cell Carcinoma in Patients over 80 Years Presenting for Surgical Excision: Clinical Characteristics and Surgical Outcomes.Current oncology (Toronto, Ont.) · 2025Observational
- Smad4 regulates TGF-β1-mediated hedgehog activation to promote epithelial-to-mesenchymal transition in pancreatic cancer cells by suppressing Gli1 activity.Computational and structural biotechnology journal · 2024Article
- P53 and the Ultraviolet Radiation-Induced Skin Response: Finding the Light in the Darkness of Triggered Carcinogenesis.Cancers · 2024Review
- Dangerous liaisons: Loss of keratinocyte control over melanocytes in melanomagenesis.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Review
- Ultraviolet (UV) radiation: a double-edged sword in cancer development and therapy.Molecular biomedicine · 2024Review
- Risk Factors and Innovations in Risk Assessment for Melanoma, Basal Cell Carcinoma, and Squamous Cell Carcinoma.Cancers · 2024Review
- Histopathological Pattern of Head and Neck Recurrent BCC After Previous Cryotherapy.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- Supraorbital Basosquamous Carcinoma Treated with Cemiplimab Followed by Sonidegib: A Case Report and Review of the Literature.Biomedicines · 2023Article
- Review
- Does the histopathological subtype of primary basal cell carcinoma predict the subtype of secondary tumours? What role do genetic mutations play?Skin health and disease · 2023Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of genes have been implicated in the pathogenesis of BCC in addition to the Hedgehog pathway, which is known to drive the initiation of this tumour. We performed in-depth analysis of 13 BCC-related genes (CSMD1, CSMD2, DPH3 promoter, PTCH1, SMO, GLI1, NOTCH1, NOTCH2, TP53, ITIH2, DPP10, STEAP4, TERT promoter) in 57 BCC lesions (26 superficial and 31 nodular) from 55 patients and their corresponding blood samples. PTCH1 and TP53 mutations were found in 71.9% and 45.6% of BCCs, respectively. A high mutation rate was also detected in CSMD1 (63.2%), NOTCH1 (43.8%) and DPP10 (35.1%), and frequent non-coding mutations were identified in TERT (57.9%) and DPH3 promoter (49.1%). CSMD1 mutations significantly co-occurred with TP53 changes (p = 0.002). A significant association was observed between the superficial type of BCC and PTCH1 (p = 0.018) and NOTCH1 (p = 0.020) mutations. In addition, PTCH1 mutations were significantly associated with intermittent sun exposure (p = 0.046) and the occurrence of single lesions (p = 0.021), while NOTCH1 mutations were more frequent in BCCs located on the trunk compared to the head/neck and extremities (p = 0.001). In conclusion, we provide further insights into the molecular alterations underlying the tumorigenic mechanism of superficial and nodular BCCs with a view towards novel rationale-based therapeutic strategies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.