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Prediction of BRCA status

Simon A Joosse and Juliane Hannemann

Predicting the likelihood that an individual is a BRCA mutation carrier is the first step to genetic counseling, followed by germline mutation testing. Individuals who have been diagnosed as BRCA mutation-positive are offered special medical care; however, clinical management in the case of a negative test result or an unclassified variant (UV) in BRCA1 or BRCA2 can be difficult. Since it is estimated that 15% of BRCA mutation carriers are missed by current diagnostics and assessment of the clinical significance of many UVs is complex and time-consuming, new strategies are emerging that are able to predict BRCA dysfunction based on molecular tumor information rather than on family history. In this article, we review the importance of BRCA status assessment and discuss the latest developments in the prediction of the involvement of BRCA in tumorigenesis and its clinical utilization.

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