Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma.

@article{Erlandson2007NovelCM,
  title={Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma.},
  author={Anna Erlandson and Frida Appelqvist and Ann-Marie Wennberg and Joanna Holm and C Enerb{\"a}ck},
  journal={The Journal of investigative dermatology},
  year={2007},
  volume={127 6},
  pages={
          1465-7
        }
}
We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A), a major melanoma predisposing gene, in a western-Swedish hereditary melanoma population comprising 107 patients from 68 families. Using sequence analysis and multiplex ligation-dependent probe amplification, we found a novel mutation (Asp108 Tyr), segregating with the disease in three families. This mutation has previously been detected as a somatic mutation in other cancers. We found a previously described… CONTINUE READING