Genetic screening of BRCA1 and BRCA2 genes is a recurrent practice in laboratories for counseling. In the last ∼20 years, investigators have identified mutations with a founder effect, but also a series of private variants. Multi-component models have been developed to understand if a variant is deleterious or neutral. However, these models are not sufficient to understand the roles of UVs.
In this review, we report results from genetic analyses, studies in animal models and bioinformatic analyses. To combine evidences from different approaches, consortia have been created (such as ENIGMA). There is a need to develop a reliable multi-factorial model. Furthermore, indirect assays and bioinformatic tools have to be improved in order to support such a model.
Keywords: BRCA1, BRCA2, breast cancer, consortia, UVs, variants, mutations, BRCA1 null-mutants, MaxEntScan, NETGENE2
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