title: Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours.
abstract: To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. CDKN2A/ARF deletion detection was performed using D9S1748, an intragenic microsatellite marker. Allele dosage at the p14ARF locus was analysed by quantitative real-time PCR employing a TaqMan probe that anneals specifically to exon 1beta of the p14ARF gene. For detecting point mutations, dHPLC and direct sequencing of the coding sequences of CDKN2A/ARF and CDK4 was used. No germline alterations in any of the tested genes were detected among the families under study. We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours.
authors.affiliation: Service de Génétique, Institut Gustave Roussy, Villejuif, France.
authors.forename: C
authors.initials: C
authors.lastname: Marian
authors.forename: A
authors.initials: A
authors.lastname: Scope
authors.forename: K
authors.initials: K
authors.lastname: Laud
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: F
authors.initials: F
authors.lastname: Pavlotsky
authors.forename: E
authors.initials: E
authors.lastname: Yakobson
authors.forename: B
authors.initials: B
authors.lastname: Bressac-de Paillerets
authors.forename: E
authors.initials: E
authors.lastname: Azizi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D019942:Genes, p16 / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008545:Melanoma / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000208:ethnology / Q000235:genetics*; D009423:Nervous System Neoplasms / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
chemical_list: D011518:Proto-Oncogene Proteins; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases