title: A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
abstract: About 10% of melanoma cases have clinical factors indicative of hereditary cancer. CDKN2A is a major melanoma susceptibility gene in familial malignant melanoma. In this study a novel L94Q missense mutation of the CDKN2A gene is described in a melanoma kindred with two affected second-degree family members. To detect the mutation, polymerase chain reaction (PCR) amplification methods and direct sequencing were used. The presence of the mutation was confirmed by restriction fragment length polymorphism analysis after digestion of the PCR amplicons with the restriction endonuclease BspMI. The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure.
authors.affiliation: University Medical Centre, University Children's Hospital, Ljubljana, Slovenia, and Institute of Oncology, Ljubljana, Slovenia.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Avbelj
authors.forename: Marko
authors.initials: M
authors.lastname: Hocevar
authors.forename: Katarina
authors.initials: K
authors.lastname: Trebusak-Podkrajsek
authors.forename: Ciril
authors.initials: C
authors.lastname: Krzisnik
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000378:metabolism; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000494:pharmacology; D005192:Family Health; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D009841:Oligonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017524:Slovenia; D013696:Temperature
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D009841:Oligonucleotides; C052649:endodeoxyribonuclease BspMI; D015252:Deoxyribonucleases, Type II Site-Specific