Article
Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.
International journal of oncology - 1 May 2002
Curci A, Capasso I, Romano A, Bruni P, Motti M L, Pignata S, D'Aiuto G, Casamassimi A, D'Urso M, Fusco A, Viglietto G
Abstract excerpt
We have analyzed 18 families with high incidence of breast cancer or breast and ovarian cancer for the presence of BRCA1 mutations. We identified 4 mutations in the BRCA1 gene in 4 unrelated probands who belong to families with at least 1 case of breast and 1 case of ovarian cancer. Two of the mutations reported in this study are novel (GAA(1172)-->TAA in family Naples 14, GAA(1765)-->TAA in family Naples 20)...
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