title: A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes.
abstract: We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.
authors.affiliation: Medical Oncology Unit, University Hospital of Parma, via Gramsci 14, 43100 Parma, Italy. antoninomusolino@hotmail.com
authors.forename: Antonino
authors.initials: A
authors.lastname: Musolino
authors.forename: Nadia
authors.initials: N
authors.lastname: Naldi
authors.forename: Maria
authors.initials: M
authors.lastname: Michiara
authors.forename: Maria A
authors.initials: MA
authors.lastname: Bella
authors.forename: Paola
authors.initials: P
authors.lastname: Zanelli
authors.forename: Beatrice
authors.initials: B
authors.lastname: Bortesi
authors.forename: Marzia
authors.initials: M
authors.lastname: Capelletti
authors.forename: Mario
authors.initials: M
authors.lastname: Savi
authors.forename: Tauro M
authors.initials: TM
authors.lastname: Neri
authors.forename: Andrea
authors.initials: A
authors.lastname: Ardizzoni
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010375:Pedigree