scholarly journals Molecular Alterations in Basal Cell Carcinoma Subtypes

2021 ◽  
Author(s):  
Lucia Di Nardo ◽  
Cristina Pellegrini ◽  
Alessandro Di Stefani ◽  
Francesco Ricci ◽  
Barbara Fossati ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Sun Exposure ◽  
Therapeutic Strategies ◽  
Blood Samples ◽  
Molecular Alterations ◽  
Depth Analysis ◽  
Number Of Genes ◽  
Superficial Type ◽  
Tumorigenic Mechanism ◽  
Head Neck

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=0.017) and NOTCH1 (p=0.018) 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.

scholarly journals Molecular alterations in basal cell carcinoma subtypes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lucia Di Nardo ◽  
Cristina Pellegrini ◽  
Alessandro Di Stefani ◽  
Francesco Ricci ◽  
Barbara Fossati ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Sun Exposure ◽  
Therapeutic Strategies ◽  
Blood Samples ◽  
Molecular Alterations ◽  
Depth Analysis ◽  
Number Of Genes ◽  
Superficial Type ◽  
Tumorigenic Mechanism ◽  
Head Neck

AbstractA 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.

Hugh Jackman vs. Skin Cancer Awareness Month: Promoting Public Interest in Basal Cell Carcinoma (Preprint)

2020 ◽  
Author(s):  
Trevor Torgerson ◽  
Jennifer Austin ◽  
Jam Khojasteh ◽  
Matt Vassar
Keyword(s):  
Social Media ◽  
Skin Cancer ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Moving Average ◽  
Public Awareness ◽  
Sun Exposure ◽  
Cancer Awareness ◽  
Autoregressive Integrated Moving Average

BACKGROUND Public awareness for BCC is particularly important, as its major risk factors — increased sun exposure and number of sunburns — are largely preventable. OBJECTIVE Determine whether social media posts from celebrities has an affect on public awareness of basal cell carcinoma. METHODS We used Google Trends to investigate whether public awareness for basal cell carcinoma (BCC) increased following social media posts from Hugh Jackman. To forecast the expected search interest for BCC, melanoma and sunscreen in the event that each celebrity had not posted on social media, we used the autoregressive integrated moving average (ARIMA) algorithm. RESULTS We found that social media posts from Hugh Jackman, a well-known actor, increased relative search interest above the expected search interest calculated using an ARIMA forecasting model. CONCLUSIONS Our results also suggest that increasing awareness by Skin Cancer Awareness Month may be less effective for BCC, but a celebrity spokesperson has the potential to increase awareness. BCC is largely preventable, so increasing awareness could lead to a decrease in incidence.

scholarly journals Targeting Oncogenic BRAF: Past, Present, and Future

Cancers ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1197 ◽  
Author(s):  
Zaman ◽  
Wu ◽  
Bivona
Keyword(s):  
Kinase Inhibitors ◽  
Therapy Resistance ◽  
Resistance Mechanisms ◽  
Genetic Alterations ◽  
Therapeutic Strategies ◽  
Wild Type ◽  
Braf Mutations ◽  
Molecular Alterations ◽  
Mutant Braf

Identifying recurrent somatic genetic alterations of, and dependency on, the kinase BRAF has enabled a “precision medicine” paradigm to diagnose and treat BRAF-driven tumors. Although targeted kinase inhibitors against BRAF are effective in a subset of mutant BRAF tumors, resistance to the therapy inevitably emerges. In this review, we discuss BRAF biology, both in wild-type and mutant settings. We discuss the predominant BRAF mutations and we outline therapeutic strategies to block mutant BRAF and cancer growth. We highlight common mechanistic themes that underpin different classes of resistance mechanisms against BRAF-targeted therapies and discuss tumor heterogeneity and co-occurring molecular alterations as a potential source of therapy resistance. We outline promising therapy approaches to overcome these barriers to the long-term control of BRAF-driven tumors and emphasize how an extensive understanding of these themes can offer more pre-emptive, improved therapeutic strategies.

Diagnosis of basal cell carcinoma by infrared spectroscopy of whole blood samples applying soft independent modeling class analogy

2007 ◽  
Vol 133 (12) ◽  
pp. 1001-1010 ◽  
Author(s):  
Mohammadreza Khanmohammadi ◽  
Razieh Nasiri ◽  
Keyvan Ghasemi ◽  
Simin Samani ◽  
Amir Bagheri Garmarudi
Keyword(s):  
Infrared Spectroscopy ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Whole Blood ◽  
Blood Samples ◽  
Whole Blood Samples

Genetic algorithm spectral feature selection coupled with quadratic discriminant analysis for ATR-FTIR spectrometric diagnosis of basal cell carcinoma via blood sample analysis

RSC Advances ◽  
2014 ◽  
Vol 4 (78) ◽  
pp. 41484-41490 ◽  
Author(s):  
Mohammadreza Khanmohammadi ◽  
Keyvan Ghasemi ◽  
Amir Bagheri Garmarudi
Keyword(s):  
Genetic Algorithm ◽  
Feature Selection ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Spectral Feature ◽  
Quadratic Discriminant Analysis ◽  
Sample Analysis ◽  
Blood Samples ◽  
Spectral Feature Selection

A diagnostic approach for basal cell carcinoma (BCC) has been developed based on investigation of the infrared spectra of blood samples.

Geographic Pathology of Skin Cancer

1999 ◽  
Vol 3 (3) ◽  
pp. 120-122
Author(s):  
Robert Jackson
Keyword(s):  
Squamous Cell Carcinoma ◽  
Skin Cancer ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Basal Cell ◽  
Sun Exposure

Background: The development of knowledge concerning the role of sun exposure in causing skin cancer has been a gradual one. Objective: This article reviews the article by Urbach who used manikin coated with an ultraviolet dosimeter to see exactly where on the head and neck the exposure was greatest. Conclusion: Urbach showed that the areas of greatest sun exposure on his manikins corresponded with the location of 95% of squamous cell carcinoma and 66% of basal cell carcinoma. He also clearly showed the importance of scattered sky and reflected radiation.

scholarly journals Molecular Alterations during Progression of Prostate Cancer to Androgen Independence

2011 ◽  
Vol 57 (10) ◽  
pp. 1366-1375 ◽  
Author(s):  
Punit Saraon ◽  
Keith Jarvi ◽  
Eleftherios P Diamandis
Keyword(s):  
Prostate Cancer ◽  
Molecular Mechanisms ◽  
Therapeutic Strategies ◽  
Androgen Independence ◽  
Molecular Alterations ◽  
Signaling Mechanisms ◽  
Hormonal Therapies ◽  
Epigenetic Signatures ◽  
Key Pathways ◽  
Androgen Independent

BACKGROUND Prostate cancer is the most commonly diagnosed cancer among men in North America and is a leading cause of death. Standard treatments include androgen deprivation therapy, which leads to improved clinical outcomes. However, over time, most tumors become androgen independent and no longer respond to hormonal therapies. Several mechanisms have been implicated in the progression of prostate cancer to androgen independence. CONTENT Most tumors that have become androgen independent still rely on androgen receptor (AR) signaling. Mechanisms that enhance AR signaling in androgen-depleted conditions include: AR gene amplification, AR mutations, changes in the balance of AR cofactors, increases in steroidogenic precursors, and activation via “outlaw” pathways. Along with AR signaling, various other AR-independent “bypass” pathways have been shown to operate aberrantly during androgen independence. Changes in the epigenetic signatures and microRNA concentrations have also been implicated in the development of androgen-independent prostate cancer. SUMMARY Understanding of the molecular mechanisms that lead to the development of androgen-independent prostate cancer will allow for improved therapeutic strategies that target key pathways and molecules that are essential for these cells to survive.

Does intermittent sun exposure cause basal cell carcinoma? a case-control study in Western Australia

1995 ◽  
Vol 60 (4) ◽  
pp. 489-494 ◽  
Author(s):  
Anne Kricker ◽  
Bruce K. Armstrong ◽  
Dallas R. English ◽  
Peter J. Heenan
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Western Australia ◽  
Basal Cell ◽  
Case Control Study ◽  
Sun Exposure ◽  
Case Control ◽  
Control Study

scholarly journals 658Familial aggregation of melanoma by anatomic site of occurrence

2021 ◽  
Vol 50 (Supplement_1) ◽  
Author(s):  
Sarah Ward ◽  
Esther N Drill ◽  
Colin B Begg
Keyword(s):  
Familial Aggregation ◽  
Familial Risk ◽  
Sun Exposure ◽  
Population Level ◽  
Anatomic Site ◽  
Younger Women ◽  
Individual Site ◽  
Etiologic Heterogeneity ◽  
Familial Patterns ◽  
Head Neck

Abstract Background Evidence is emerging that melanoma has distinct etiologic pathways and subtypes, characterized by factors like anatomic site. For example, older men have more head and neck melanomas, and younger women more leg melanomas. Family history is a strong risk factor and familial risk genes have been identified. We therefore aimed to investigate familial aggregation of melanoma from an etiologic heterogeneity perspective, to determine whether melanoma subtypes aggregate within families. Methods Using population-level linked health data, we examined the extent to which melanomas in first-degree relatives (FDRs) of cases shared the same body site of occurrence. FDR-pairs diagnosed with melanoma were identified using the Western Australian Cancer Registry and genealogical Family Connections System. Site was categorized as head/neck, trunk/arms, or legs. We identified 1,006 pairs of tumours from 677 family pairs and used Chi-Squared tests to evaluate familial aggregation by site. Degrees of etiologic heterogeneity of individual site-pairs were characterized by site concordance odds ratios. Results Familial aggregation by site was statistically significant (P = 0.01). However, only the site pairings of head/neck versus trunk/arms showed strong evidence of familial concordance (OR = 1.7, 95% CI 1.1-1.7). Trends were broadly similar in same-sex pairs. Conclusions Results show modest evidence of familial aggregation of melanoma by site, with overall evidence of aggregation but inconsistent patterns between sites. Key messages Strong etiologic differences in incidence between anatomic sites for age and sex may be more strongly influenced by non-genetic factors, such as familial patterns of sun exposure.

Basal Cell Carcinoma: Epidemiology, Risk Factors, and Treatment Options

2017 ◽  
Author(s):  
Jeffrey M Farma ◽  
Elena P Lamb
Keyword(s):  
Risk Factors ◽  
Photodynamic Therapy ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Treatment Options ◽  
Sun Exposure ◽  
Hedgehog Pathway ◽  
Treatment Modalities ◽  
Genetic Syndromes

Ultraviolent (UV) solar radiation is considered to be the dominant risk factor for development of basal cell carcinoma (BCC). The development of BCC is thought to arise from intense, intermittent sun exposure leading to burns. Identifying patients with high-risk factors for developing BCC includes chronic immunosuppression, exposure to ionizing radiation, and certain genetic syndromes. Primary treatment goals of BCC include cure of tumor with maximal preservation of function. Although rarely metastatic, BCC can produce substantial local destruction. Treatment modalities can be divided into surgical and nonsurgical therapies, although surgical therapy is the mainstay of treatment. Superficial therapies, such as topical imiquimod or 5-fluorouracil, photodynamic therapy, or cryotherapy, may be effective for anatomically challenging locations where surgery or radiation is contraindicated, but the cure rates of these approaches are lower compared with surgery. Recent FDA-approved hedgehog pathway inhibitors include vismodegib and sonidegib for patients who have exhausted surgical and radiation options for treating advanced BCC. This review contains 4 figures, 5 tables, and 25 references. Key words: cryosurgery, cutaneous basal cell carcinoma, hedgehog pathway inhibitors, Mohs micrographic surgery, pathologic risk factors, photodynamic therapy, radiation therapy, surgical margins, topical therapies 

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