title: BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.
abstract: We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.
authors.affiliation: Dipartimenti di Scienze Biomediche, Università "G. D'Annunzio", Chieti, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: P
authors.initials: P
authors.lastname: Di Fulvio
authors.forename: G
authors.initials: G
authors.lastname: Aceto
authors.forename: S
authors.initials: S
authors.lastname: Pintor
authors.forename: S
authors.initials: S
authors.lastname: Veschi
authors.forename: V
authors.initials: V
authors.lastname: Gatta
authors.forename: A
authors.initials: A
authors.lastname: Colosimo
authors.forename: E
authors.initials: E
authors.lastname: Cianchetti
authors.forename: A
authors.initials: A
authors.lastname: Cama
authors.forename: R
authors.initials: R
authors.lastname: Mariani-Costantini
authors.forename: P
authors.initials: P
authors.lastname: Battista
authors.forename: G
authors.initials: G
authors.lastname: Palka
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*