Article
Two patients with germline mutations in both BRCA1 and BRCA2 discovered unintentionally: a case series and discussion of BRCA testing modalities.
Breast cancer research and treatment - 1 Sept 2011
Augustyn Ann Marie, Agostino Nicole M, Namey Tara L, Nair Suresh, Martino Martin A
Abstract excerpt
When a family is known to have a BRCA mutation, genetic testing for family members is typically limited to single site analysis of the known mutation. The exception to this is in Ashkenazi Jewish families, where testing for the three common Ashkenazi Jewish BRCA mutations is recommended. We report two cases, one without Ashkenazi Jewish ancestry and one with maternal Ashkenazi Jewish ancestry, who underwent...
Topics
- Adult
- Aged
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- DNA Mutational Analysis
- Diagnostic Errors
- Early Detection of Cancer
- Female
- Genetic Predisposition to Disease