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Indexed/Abstracted in: EMBASE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,246
Online ISSN 1827-160X
Santarosa M., Viel A., Boiocchi M.
Division of Experimantal Oncology 1, Centro di Riferimento Oncologico, Aviano, Italy
Approximately 5-10% of all breast and ovarian cancers are diagnosed in patients that present other breast and/or ovarian cancer cases in their family, suggesting an inheritable predisposition to cancer. The majority of these inheritable forms of breast and ovarian cancers are due to alterations of the two tumor suppressor genes recently cloned, BRCA1 and BRCA2. BRCA1, localized to chromosome 17q21 by genetic linkage of early onset breast cancer families, was cloned in 1994, and BRCA2, mapping to 13q12-13, was identified in 1995. Although the suppressive effect of BRCA1 and BRCA2 genes is still far to be completely understood, much progress has been made to elucidate their possible biological roles, and many efforts have been made to estimate the incidence and penetrance of their mutations. In the present review, the structural complexity of these genes and their biological properties will be discussed, by reporting data from the studies on the conserved motifs among species and on the interacting proteins. In particular, the mutational screening strategies in use in our laboratory as well as those used by other investigators will be described.