ArticleThe Journal of investigative dermatology2014
Mutational landscape of basal cell carcinomas by whole-exome sequencing.
Article in The Journal of investigative dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers.
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Who cites it
107 citing papers in PubMed.
- Efficacy and tolerability of neoadjuvant therapy with Talimogene laherparepvec in cutaneous basal cell carcinoma: a phase II trial (NeoBCC trial).Nature cancer · 2025Trial
- Long term response of electrochemotherapy with reduced dose of bleomycin in elderly patients with head and neck non-melanoma skin cancer.Radiology and oncology · 2020Trial
- Arsenic exposure and skin cancer: Mechanisms, clinical evidence and public health implications (Review).International journal of molecular medicine · 2026Review
- Does Basal Cell Carcinoma Arise from a Precursor Lesion?The Journal of investigative dermatology · 2026Review
- Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.Hereditary cancer in clinical practice · 2026Article
- Spatially controlled induction and regression of basal cell carcinoma, visualized by serial imaging in young and old mice.JID innovations : skin science from molecules to population health · 2026Article
- Dissection of Gαs and Hedgehog Signaling Cross-talk Reveals Therapeutic Opportunities to Target Hedgehog-Dependent Tumors.Cancer research · 2026Article
- Article
- Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.International journal of molecular sciences · 2025Article
- Basal Cell Carcinoma in Patients over 80 Years Presenting for Surgical Excision: Clinical Characteristics and Surgical Outcomes.Current oncology (Toronto, Ont.) · 2025Observational
- Squamoid Eccrine Ductal Carcinoma Displays Ultraviolet Mutations and Intermediate Gene Expression Relative to Squamous Cell Carcinoma, Microcystic Adnexal Carcinoma, and Porocarcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Article
- Uncovering the hidden risk of metastatic cutaneous basal cell carcinoma by molecular profiling: A retrospective review.JAAD international · 2024Article
- Contribution of Keratinocytes in Skin Cancer Initiation and Progression.International journal of molecular sciences · 2024Review
- Biomarkers in Cutaneous Keratinocyte Carcinomas.Dermatology and therapy · 2024Review
- Therapeutic Approaches for Non-Melanoma Skin Cancer: Standard of Care and Emerging Modalities.International journal of molecular sciences · 2024Review
- Article
- Ultraviolet Radiation Biological and Medical Implications.Current issues in molecular biology · 2024Review
- Basal cell carcinoma-a clinical indicator of immunosuppression.Frontiers in medicine · 2024Article
- Review
- The Immune Microenvironment in Basal Cell Carcinoma.Annals of dermatology · 2023Review
47 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in sequencing technology allow genome-scale approaches to cancer mutation discovery. Such data-intensive methods have been applied to cutaneous squamous cell carcinomas (SCCs) and melanomas but have not, to our knowledge, been applied to basal cell carcinomas (BCCs). We used whole-exome sequencing to characterize the mutational landscape of sporadic BCCs. We show that BCCs are the most mutated type of human cancer. Tumors from anatomical regions with chronic UV exposure were associated with higher mutation rates than those with intermittent exposure. The majority of all mutations (75.7%) were UV signature. Using a conventional binomial probability model, several genes were found mutated significantly. However, this model assumes a uniform distribution of mutations throughout the genome. We also used a more stringent approach called InVEx that uses a permutation-based framework to pick drivers from passengers. After correction for multiple hypothesis testing, InVEx identified only PTCH1 (Patched 1) as having a significant functional mutation burden. We also found three genes, STAT5B, CRNKL1, and NEBL, with mutational hot spots at a single base in 3 of 12 tumors sequenced. Our findings support the central role of PTCH1 mutations in BCC genesis. Moreover, our discovery of the uniquely high number of mutations in this tumor may lend insight into its biological behavior.
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