Current Women`s Health Reviews

John Yeh  
Harvard Medical School 
Department of Obstetrics and Gynecology
Massachusetts General Hospital
Boston, MA


BRCA Unclassified Variants: How Can They be Classified?

Author(s): Stefania Tommasi, Simona De Summa, Brunella Pilato, Angelo Paradiso.


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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Article Details

Year: 2012
Page: [30 - 37]
Pages: 8
DOI: 10.2174/157340412799079264