Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.
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.
Edwards
Emma
E
Wessex Clinical Genetics Service, Princess Anne Hospital, Level G, Southampton, Hampshire SO16 5YA, UK. Emma.Edwards@suht.swest.nhs.uk
Yearwood
Catharina
C
Sillibourne
Julie
J
Baralle
Diana
D
Eccles
Diana
D
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
D019313:BRCA1 Protein