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. © Springer 2005.
A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes / Musolino, A.; Naldi, N.; Michiara, M.; Bella, M. A.; Zanelli, P.; Bortesi, B.; Capelletti, M.; Savi, M.; Neri, T. M.; Ardizzoni, A.. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - 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
Musolino A.
Writing – Original Draft Preparation
;Naldi N.;Bella M. A.;Neri T. M.;Ardizzoni A.
2005-01-01
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. © Springer 2005.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
