Mutational analysis of the BRAF gene in human congenital and dysplastic melanocytic naevi

Thilo Papp1, Holger Schipper, Krishan Kumar

  • 1Department of Biological Sciences, Institute of Cell Biology and Biosystem Technology, Rostock, Germany. thilo.papp@biologie.uni-rostock.de

Melanoma Research
|September 24, 2005
PubMed

Insights

Mutations in the BRAF oncogene were found in most congenital melanocytic naevi (CMN) and some dysplastic melanocytic naevi (DMN). These BRAF mutations may increase the risk of melanoma development in these skin lesions.

Area of Science:

  • Oncology
  • Dermatology
  • Molecular Biology

Background:

  • Congenital melanocytic naevi (CMN) and dysplastic melanocytic naevi (DMN) are common skin lesions.
  • The BRAF oncogene is frequently mutated in cutaneous melanomas.

Purpose of the Study:

  • To screen CMN and DMN for mutations in the BRAF oncogene.
  • To investigate the potential role of BRAF mutations in melanoma development within CMN and DMN.

Main Methods:

  • Screening of 18 CMN and 18 DMN for BRAF mutations using single-strand conformational polymorphism (SSCP)/sequencing analysis.
  • Analysis of N-ras oncogene mutations from previous studies.

Main Results:

  • BRAF mutations were detected in both CMN and DMN samples.
  • Overall, 94.4% of CMN and 27.7% of DMN harbored either BRAF or N-ras mutations.
  • BRAF mutations were identified in 17 out of 18 CMN and 5 out of 18 DMN.

Conclusions:

  • The frequent occurrence of BRAF mutations in CMN and DMN suggests their potential involvement in melanoma pathogenesis.
  • BRAF mutations may represent a risk factor for melanoma development in individuals with CMN and DMN.

Related Concept Videos

Skin Cancer01:30

Skin Cancer

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.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Mismatch Repair01:20

Mismatch Repair

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.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...