Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.

@article{Sturm2014PhenotypicCO,
  title={Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.},
  author={Richard A Sturm and Carly Fox and Phil McClenahan and Kasturee Jagirdar and Maider Ibarrola-Villava and Parastoo Banan and Nicola Cd Abbott and Gl{\`o}ria Ribas and Brian G Gabrielli and David L Duffy and H. Peter Soyer},
  journal={The Journal of investigative dermatology},
  year={2014},
  volume={134 1},
  pages={141-149}
}
A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 26 extracted citations

The Impact of MITF on Melanoma Development – News from Bench and Bedside

The Journal of investigative dermatology • 2014
View 3 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…