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

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...

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Main Authors: James M. Kilgour, Justin L. Jia, Kavita Y. Sarin
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/13/15/3870
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author James M. Kilgour
Justin L. Jia
Kavita Y. Sarin
author_facet James M. Kilgour
Justin L. Jia
Kavita Y. Sarin
author_sort James M. Kilgour
collection DOAJ
description 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.
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spelling doaj.art-58906a346a9c4d69893f19b3897866252023-11-22T05:29:14ZengMDPI AGCancers2072-66942021-07-011315387010.3390/cancers13153870Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted TherapeuticsJames M. Kilgour0Justin L. Jia1Kavita Y. Sarin2Department of Dermatology, Stanford University School of Medcine, Stanford, CA 94305, USADepartment of Dermatology, Stanford University School of Medcine, Stanford, CA 94305, USADepartment of Dermatology, Stanford University School of Medcine, Stanford, CA 94305, USABasal 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.https://www.mdpi.com/2072-6694/13/15/3870basal cell carcinomaskin neoplasmsdermatologyreviewmolecular geneticsgermline mutation
spellingShingle James M. Kilgour
Justin L. Jia
Kavita Y. Sarin
Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
Cancers
basal cell carcinoma
skin neoplasms
dermatology
review
molecular genetics
germline mutation
title Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
title_full Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
title_fullStr Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
title_full_unstemmed Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
title_short Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics
title_sort review of the molecular genetics of basal cell carcinoma inherited susceptibility somatic mutations and targeted therapeutics
topic basal cell carcinoma
skin neoplasms
dermatology
review
molecular genetics
germline mutation
url https://www.mdpi.com/2072-6694/13/15/3870
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