title: Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.
abstract: De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Level G, Southampton, Hampshire SO16 5YA, UK. Emma.Edwards@suht.swest.nhs.uk
authors.forename: Emma
authors.initials: E
authors.lastname: Edwards
authors.forename: Catharina
authors.initials: C
authors.lastname: Yearwood
authors.forename: Julie
authors.initials: J
authors.lastname: Sillibourne
authors.forename: Diana
authors.initials: D
authors.lastname: Baralle
authors.forename: Diana
authors.initials: D
authors.lastname: Eccles
mesh_terms: D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D009154:Mutation; D010375:Pedigree
chemical_list: D019313:BRCA1 Protein