title: Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish woman with primary breast and ovarian cancer.
abstract: We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.
authors.affiliation: Department of Gynecologic Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Whitney A
authors.initials: WA
authors.lastname: Spannuth
authors.forename: Premal H
authors.initials: PH
authors.lastname: Thaker
authors.forename: Anil K
authors.initials: AK
authors.lastname: Sood
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D018570:Risk Assessment; D016896:Treatment Outcome