title: Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.
abstract: We have analyzed 18 families with high incidence of breast cancer or breast and ovarian cancer for the presence of BRCA1 mutations. We identified 4 mutations in the BRCA1 gene in 4 unrelated probands who belong to families with at least 1 case of breast and 1 case of ovarian cancer. Two of the mutations reported in this study are novel (GAA(1172)-->TAA in family Naples 14, GAA(1765)-->TAA in family Naples 20) whereas the others are already present in the Breast Cancer Information Core Electronic Database (http://nchgr.nih.gov/ Intramural research/Lab transfer/Bic/) (5382insC in family Naples 18 and 2080delA in family Naples 19). Conversely, no mutation in the BRCA1 gene was detected in 14 families characterized by 2 or more cases of breast cancer only, even if bilateral and with early-onset. These results indicate that germline mutations in the BRCA1 gene highly predispose for a cancer syndrome that involves the presence of both breast and ovarian cancer.
authors.affiliation: Istituto Nazionale Tumori, Fondazione Pascale, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Curci
authors.forename: I
authors.initials: I
authors.lastname: Capasso
authors.forename: A
authors.initials: A
authors.lastname: Romano
authors.forename: P
authors.initials: P
authors.lastname: Bruni
authors.forename: M L
authors.initials: ML
authors.lastname: Motti
authors.forename: S
authors.initials: S
authors.lastname: Pignata
authors.forename: G
authors.initials: G
authors.lastname: D'Aiuto
authors.forename: A
authors.initials: A
authors.lastname: Casamassimi
authors.forename: M
authors.initials: M
authors.lastname: D'Urso
authors.forename: A
authors.initials: A
authors.lastname: Fusco
authors.forename: G
authors.initials: G
authors.lastname: Viglietto
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA