title: Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations.
abstract: The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain. fjd_genetica@jet.es
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: J M
authors.initials: JM
authors.lastname: San Román
authors.forename: J
authors.initials: J
authors.lastname: Albertos
authors.forename: J
authors.initials: J
authors.lastname: Andrade
authors.forename: A
authors.initials: A
authors.lastname: Barabash
authors.forename: J
authors.initials: J
authors.lastname: Benítez
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D013030:Spain