title: Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
abstract: Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.
authors.affiliation: Dipartimento di Oncologia, Biologia e Genetica, Universita' degli Studi di Genova, Genova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pastorino
authors.forename: R
authors.initials: R
authors.lastname: Cusano
authors.forename: S
authors.initials: S
authors.lastname: Nasti
authors.forename: F
authors.initials: F
authors.lastname: Faravelli
authors.forename: F
authors.initials: F
authors.lastname: Forzano
authors.forename: C
authors.initials: C
authors.lastname: Baldo
authors.forename: M
authors.initials: M
authors.lastname: Barile
authors.forename: S
authors.initials: S
authors.lastname: Gliori
authors.forename: M
authors.initials: M
authors.lastname: Muggianu
authors.forename: G
authors.initials: G
authors.lastname: Ghigliotti
authors.forename: M G
authors.initials: MG
authors.lastname: Lacaita
authors.forename: L
authors.initials: L
authors.lastname: Lo Muzio
authors.forename: G
authors.initials: G
authors.lastname: Bianchi-Scarra
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D022821:RNA Splice Sites; D011956:Receptors, Cell Surface