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Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Skin Cancer

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Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Related Experiment Video

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maria Giovanna Maturo1, Sivaramakrishna Rachakonda2,3, Barbara Heidenreich3

  • 1Department of Dermatology, Department of Biotechnology and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.

Scientific Reports
|May 16, 2020
PubMed
Summary
This summary is machine-generated.

This study highlights the significance of noncoding mutations in basal cell carcinoma (BCC) development, alongside common PTCH1 and TP53 gene mutations. These findings are crucial for understanding BCC etiology and developing targeted therapies.

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Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Basal cell carcinoma (BCC) is the most common human cancer in fair-skinned populations, primarily linked to sun exposure.
  • Understanding the genetic underpinnings of BCC is crucial for improving diagnosis and treatment strategies.

Purpose of the Study:

  • To investigate both coding and noncoding mutations in key genes (PTCH1, TP53, TERT, DPH3) in 191 BCC tumors.
  • To explore the correlation between specific mutations, clinical features, and gene expression levels.

Main Methods:

  • Genomic analysis of PTCH1, TP53, TERT, and DPH3 in 191 BCC tumors.
  • Assessment of TERT hypermethylated oncological region (THOR) methylation and reverse transcriptase subunit expression.

Main Results:

  • High frequencies of mutations were observed in PTCH1 (58.6%), TP53 (31.4%), TERT promoter (59.2%), and DPH3 promoter (38.2%).
  • Significant co-occurrence of mutations across the four loci was noted.
  • PTCH1 mutations correlated with younger age at diagnosis; TP53 with lighter skin and nevi; TERT/DPH3 promoters with prior skin neoplasms.
  • TERT promoter mutations, not THOR methylation, were linked to increased reverse transcriptase subunit expression.

Conclusions:

  • Noncoding mutations in TERT and DPH3 promoters play a significant role in BCC pathogenesis, comparable to coding mutations in PTCH1 and TP53.
  • Functional alterations in the TERT promoter are particularly important in BCC development.