Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma‐prone families or patients

  title={Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma‐prone families or patients},
  author={C. Kannengiesser and S. Brookes and Anna Gutierrez del Arroyo and Danielle T Pham and J. Bombled and M. Barrois and O. Mauffret and M Marie‐FrançoiseAvril and A. Chompret and Gilbert M. Lenoir and A. Sarasin and G. Peters and B. Paillerets},
  journal={Human Mutation},
  • C. Kannengiesser, S. Brookes, +10 authors B. Paillerets
  • Published 2009
  • Biology, Medicine
  • Human Mutation
  • Germline mutations of the CDKN2A gene are found in melanoma‐prone families and individuals with multiple sporadic melanomas. The encoded protein, p16INK4A, comprises four ankyrin‐type repeats, and the mutations, most of which are missense and occur throughout the entire coding region, can disrupt the conformation of these structural motifs as well as the association of p16INK4a with its physiological targets, the cyclin‐dependent kinases (CDKs) CDK4 and CDK6. Assessing pathogenicity of… CONTINUE READING
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