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.
A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes / Musolino A; Naldi N; Michiara M; Bella MA; Zanelli P; Bortesi B; Capelletti M; Savi M; Neri TM; Ardizzoni A. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - ELETTRONICO. - 91:2(2005), pp. 203-205. [10.1007/s10549-004-7704-4]
A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes
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.
