title: CDKN2A novel mutation in a patient from a melanoma-prone family.
abstract: CDKN2A is thought to be the main candidate gene for melanoma susceptibility. Deletion or mutations in the CDKN2A gene may produce an imbalance between functional p16 and cyclin D, causing abnormal cell growth. We here describe a novel mutation consisting of a 1 bp deletion at nucleotide position 201 (codon 67) (CACGGcGCG) resulting in a truncated protein (stop codon 145). The patient, a female subject from a melanoma-prone family, presented at the age of 47 years with a superficial spreading melanoma of the trunk. Her father had colon cancer at the age of 43 years and melanoma at 63 years, her uncle suffered from gastric cancer, and her grandfather had laryngeal cancer.
authors.affiliation: Medical Genetics, University of Rome 'La Sapienza', c/o Osp. L. Spallanzani, V. Portuense n. 292, 00149 Rome, Italy. paola.grammatico@uniroma1.it
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
authors.forename: F
authors.initials: F
authors.lastname: Binni
authors.forename: L
authors.initials: L
authors.lastname: Eibenschutz
authors.forename: C
authors.initials: C
authors.lastname: De Bernardo
authors.forename: B
authors.initials: B
authors.lastname: Grammatico
authors.forename: R
authors.initials: R
authors.lastname: Rinaldi
authors.forename: P
authors.initials: P
authors.lastname: De Simone
authors.forename: C
authors.initials: C
authors.lastname: Catricalà
mesh_terms: D000328:Adult; D001483:Base Sequence; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004252:DNA Mutational Analysis; D030561:Databases, Nucleic Acid; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16