Table 1

Overview of the studied melanoma families with CDK4 germline mutations

Family designationLaboratory number of familyMutationSubjects with verified cutaneous melanoma in pedigreeTotal number of subjects with analysed DNAMutation positive family membersMutation negative family membersSpousesReference
Norway-1Arg24His281083348275
USA-18302Arg24Cys929121074
USA-28290Arg24Cys6127504
UK-1301Arg24His452215
UK-21119Arg24Cys57430Unpublished
Latvia-1247Arg24His5523013
Latvia-2268Arg24His5633016
Latvia-3M679Arg24His53201Unpublished
Australia-160007Arg24His1032015
Italy-1FM029Arg24His4641115
Italy-2501153Arg24Cys1211018
France-1759Arg24His61493212
France-2Arg24His2430114
France-3Arg24Cys21100Unpublished
France-414648Arg24Cys31100Unpublished
France-5Arg24His21100Unpublished
Greece-1Arg24His6220017
Total10320989*7941
  • *Sixty-two of the mutation positive family members had melanoma and 27 were unaffected.