Human Molecular Genetics, Vol 7, 209-216, Copyright © 1998 by Oxford University Press
N Soufir, MF Avril, A Chompret, F Demenais, J Bombled, A Spatz, D Stoppa- Lyonnet, J Benard and B Bressac-de Paillerets
Germline mutations in the p16 and CDK4 genes have been reported in a subset
of melanoma pedigrees, but their prevalence is not well known. We searched
for such germline mutations in 48 French melanoma-prone families selected
according to two major criteria: families with at least three affected
members (n = 20) or families with two affected members, one of them
affected before the age of 50 (n = 28), and one additional minor criterion.
Sixteen different p16 germline mutations were found in 21 families, while
one germline mutation, Arg24His, was detected in the CDK4 gene. The
frequency of p16 gene mutation in our sample (44%) is among the highest
rates yet reported and the CDK4 mutation is the second mutation detected in
this gene worldwide. In summary, our results show frequent involvement of
the p16 gene in familial melanoma and confirm the role of the CDK4 gene as
a melanoma- predisposing gene.
ARTICLES
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]
Unite des Marqueurs Genetiques des Cancers, Institut Gustave Roussy (IGR), 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France.
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