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Related Concept Videos

Skin Cancer01:30

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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 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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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Related Experiment Video

Updated: Apr 26, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones
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Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

A de la Fouchardière1, O Cabaret2, L Savin3

  • 1Département de Biopathologie, Centre Leon Bérard, Lyon, France.

Clinical Genetics
|August 1, 2014
PubMed
Summary

Basal cell carcinomas (BCCs) may be part of the BAP1 cancer syndrome. This study found BAP1 protein loss in BCCs from BAP1 mutation carriers, suggesting BCCs should be monitored in these individuals.

Keywords:
BAP1 cancer syndromebasal cell carcinomageneticsskin cancer

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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • The BRCA1-associated protein 1 (BAP1) gene is a tumor suppressor.
  • Germline BAP1 mutations increase risk for melanoma, mesothelioma, and renal cancer.
  • An increased incidence of basal cell carcinoma (BCC) was observed in BAP1 families.

Purpose of the Study:

  • To investigate the association between BAP1 mutations and basal cell carcinoma (BCC).
  • To determine if BAP1 protein expression is altered in BCCs from BAP1 mutation carriers.

Main Methods:

  • Clinical observation of BCCs in BAP1 families.
  • Immunohistochemistry (IHC) to assess BAP1 protein expression in BCCs.
  • Comparison with sporadic BCCs in a control group.

Main Results:

  • Nineteen BCCs were diagnosed in four patients from two BAP1 families.
  • BCCs were located in sun-exposed areas and were of superficial or nodular subtypes.
  • Loss of BAP1 nuclear expression was detected in 19 BCCs from BAP1 carriers but not in sporadic BCCs.

Conclusions:

  • Basal cell carcinomas (BCCs) are suggested to be part of the BAP1 cancer syndrome.
  • BCC development may be influenced by chronic sun exposure and MC1R variants in BAP1 carriers.
  • Cutaneous surveillance for BAP1 carriers should include monitoring for BCCs in addition to melanocytic neoplasms.