A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes
Antonino Musolino1, Nadia Naldi, Maria Michiara
1Medical Oncology Unit, University Hospital of Parma, via Gramsci 14, 43100 Parma, Italy. antoninomusolino@hotmail.com
Abstract:
We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.
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