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Women's Health Weekly

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Breast Cancer



Germline mutations in BRCA1 and BRCA2 genes detected in breast cancer patient



June 30th, 2005

Germline mutations in both the BRCA1 and BRCA2 genes were detected in an Italian breast cancer patient.

"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," scientists in Italy reported.

"The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed," stated A. Musolino and colleagues, University Hospital of Parma.

The researchers concluded, "The implications of this case in regard to genetic testing and counseling are...


Source: Women's Health Weekly (2005-06-30)

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