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, Mario; Neri, Tauro Maria; Ardizzoni, A.; May, .; PMID PUBMED INDEXED FOR, Medline. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - 91:(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;SAVI, Mario;NERI, Tauro Maria;
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.| File | Dimensione | Formato | |
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