TY - JOUR
T1 - Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France
AU - Soufir, Nadem
AU - Avril, Marie Françoise
AU - Chompret, Agnès
AU - Demanais, Florence
AU - Bombled, Johny
AU - Spatz, Alain
AU - Stoppa-Lyonnet, Dominique
AU - Bénard, Jean
AU - Bressac-de Paillerets, Brigitte
AU - Bachollet, Bertrand
AU - Boitier, Françoise
AU - Césarini, Jean Pierre
AU - Chevrant-Breton, Jacqueline
AU - Couillet, Didier
AU - Courouge-Dorcier, Anne Marie
AU - Desailloud, Gérard
AU - Dolfus, Arielle
AU - Garnier-Fournier, Claudine
AU - Joly, Pascal
AU - Krug-Milon, Monique
AU - Lantier, Karine
AU - Moureaux, Patrick
AU - Moretti, Silvia
AU - Ortoli, Jean Christophe
AU - Sassolas, Bruno
AU - Truchetet, François
PY - 1998/2/1
Y1 - 1998/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=6844226190&partnerID=8YFLogxK
U2 - 10.1093/hmg/7.2.209
DO - 10.1093/hmg/7.2.209
M3 - Article
C2 - 9425228
AN - SCOPUS:6844226190
SN - 0964-6906
VL - 7
SP - 209
EP - 216
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 2
ER -