scholarly journals Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3870
Author(s):  
James M. Kilgour ◽  
Justin L. Jia ◽  
Kavita Y. Sarin
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Molecular Genetics ◽  
Basal Cell ◽  
Histone Deacetylase Inhibitors ◽  
Somatic Mutations ◽  
The United States ◽  
Health Concern ◽  
Targeted Therapeutics ◽  
Inherited Susceptibility

Basal cell carcinoma (BCC) is a significant public health concern, with more than 3 million cases occurring each year in the United States, and with an increasing incidence. The molecular basis of BCC is complex, involving an interplay of inherited genetic susceptibility, including single nucleotide polymorphisms and genetic syndromes, and sporadic somatic mutations, often induced by carcinogenic exposure to UV radiation. This review outlines the currently known germline and somatic mutations implicated in the pathogenesis of BCC, including the key molecular pathways affected by these mutations, which drive oncogenesis. With advances in next generation sequencing and our understanding of the molecular genetics of BCC, established and emerging targeted therapeutics are offering new avenues for the non-surgical treatment of BCC. These agents, including Hedgehog pathway inhibitors, immune modulators, and histone deacetylase inhibitors, will also be discussed.

The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics

2012 ◽  
Vol 66 (5) ◽  
pp. e167-e178 ◽  
Author(s):  
Julie K. Iwasaki ◽  
Divya Srivastava ◽  
Ronald L. Moy ◽  
Henry J. Lin ◽  
David J. Kouba
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Molecular Genetics ◽  
Basal Cell ◽  
Targeted Therapeutics

scholarly journals 483 Next-generation target sequencing analysis identifies multiple somatic mutations in basal cell carcinoma

2019 ◽  
Vol 139 (9) ◽  
pp. S297
Author(s):  
L. Di Nardo ◽  
C. Pellegrini ◽  
M. Maturo ◽  
F. Ricci ◽  
A. Di Stefani ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Target Sequencing

Management of basal cell carcinoma in the United States: Can we simplify care and reduce cost?

2014 ◽  
Vol 32 (30_suppl) ◽  
pp. 17-17
Author(s):  
Xinyuan Wu ◽  
Elena B. Elkin ◽  
Jason Chih-Shan Chen ◽  
Ashfaq A. Marghoob
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Average Cost ◽  
The United States ◽  
Model Parameters ◽  
Traditional Management ◽  
Pre Treatment ◽  
Total Average Cost ◽  
Total Average

17 Background: Basal cell carcinoma (BCC) is the most common cancer in the US, affecting more than 3 million people every year, and the incidence of BCC is increasing. Traditional management of BCC involves multiple physician visits and a pre-treatment biopsy which may be unnecessary. We assessed the costs of treating BCC, comparing traditional management with a simplified scheme. Methods: We developed a decision analytic model to compare the costs of traditional BCC management with a simplified Detect and Treat (DAT) scheme that eliminates pre-treatment biopsy. We assumed that all patients had an unequivocal BCC diagnosis based on clinical and dermoscopic findings. In the traditional approach, all patients had a biopsy prior to treatment. In the DAT scheme, well delineated lesions ≤1cm in diameter on the trunk and extremities were treated with shave removal and Mohs indicated lesions were referred to Mohs for on-site histologic check, both eliminating pre-treatment biopsy. Distributions of lesion location, size and treatment modality, and estimates of clinical diagnostic accuracy and success of shave removal were from the literature and from an analysis of 240 consecutive BCC cases seen over 5 years at our institution. Costs were based on assumptions about the number of dermatologist visits, tests and procedures required for each strategy, and unit prices from the 2014 Medicare physician fee schedule. Results: The average cost per case in the DAT scheme was $449 for non-Mohs-indicated lesions and $819 for Mohs-indicated lesions, compared with $566 and $864, respectively, with traditional management. DAT was associated with a savings of $117 (21% of total average cost) per non-Mohs-indicated case and $45 (5% of total average cost) per Mohs-indicated case. The combined weighted average savings per case was $95 (15% of total average cost). The magnitude of savings varied with changes in model parameters, but conclusions were similar under a wide range of plausible scenarios. Conclusions: A simplified management strategy that avoids routine pre-treatment biopsy can reduce the cost of treating BCC without compromising quality of care.

scholarly journals Metastatic Basal Cell Carcinoma

2021 ◽  
pp. 1-2
Author(s):  
Aravind Reddy Kuchkuntla ◽  
Keyword(s):  
United States ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Distant Metastasis ◽  
The United States ◽  
Tissue Destruction ◽  
Surrounding Soft Tissue ◽  
Common Cancer ◽  
Metastatic Basal Cell Carcinoma

Basal cell carcinoma (BCC) is the most common cancer worldwide with an estimated annual incidence of 2 million in the United States. Majority of the patients present with a suspicious skin lesion with surrounding soft tissue destruction, but distant metastasis is rare, reportedly in less than 0.05-0.1% of all cases. So far, around 350 cases have been reported with majority of metastases occurring in primary lesions of head and neck. Here, we present a patient with high-risk BCC lesion presenting with distant metastasis.

scholarly journals Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shoko Onodera ◽  
Nana Morita ◽  
Yuriko Nakamura ◽  
Shinichi Takahashi ◽  
Kazuhiko Hashimoto ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Enrichment Analysis ◽  
Sequencing Analysis ◽  
Gorlin Syndrome ◽  
Driver Genes ◽  
Aged Patients ◽  
Basal Cell Carcinomas

Abstract Background Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis. Methods Next-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day. Results Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling. Conclusion The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

scholarly journals Use of nonsteroidal anti-inflammatory drugs and risk of basal cell carcinoma in the United States radiologic technologists study

2011 ◽  
Vol 130 (12) ◽  
pp. 2939-2948 ◽  
Author(s):  
Elizabeth K. Cahoon ◽  
Preetha Rajaraman ◽  
Bruce H. Alexander ◽  
Michele M. Doody ◽  
Martha S. Linet ◽  
...  
Keyword(s):  
United States ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
The United States ◽  
Radiologic Technologists ◽  
Inflammatory Drugs ◽  
Anti Inflammatory
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