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.
Musolino A, Naldi N, Michiara M, Bella MA, Zanelli P, Bortesi B, et al. (2005). A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes. BREAST CANCER RESEARCH AND TREATMENT, 91(2), 203-205 [10.1007/s10549-004-7704-4].
A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes
Musolino A;ARDIZZONI, ANDREA
2005
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
