Advances in Interpreting Findings from BRCA1 Mutations

Posted by on September 20, 2018

An interesting new paper about the BRCA1 gene was published in the journal Nature last week (see here for a summary of the findings). The article is notable because it appears to offer some intriguing possibilities for relatively rapidly bringing even better genomic knowledge into cancer cases. In short, the article is focused on using a version of CRISPR to rapidly test the adverse impact of BRCA1 gene variants (until now the risk from many BRCA1 variants was undefined).

The project appears to have succeeded in providing clarity as to the interpretation of many different BRCA1 variants. In principle, the same methods could be applied to BRCA2, BAP1, TP53, and many of the other variants related to mesothelioma and ovarian cancer that we have been writing about. The testing could thus, in principle, provide more certainty to tell jurors and judges about the impact of a variant on an individual’s cancer risk (and hence provide evidence for a cause other than talc). The testing also could provide insights into mechanisms of action, which also could provide objective evidence that could be helpful to defense efforts.

In our view, the work reflected by this article provides yet another reason for litigators to look even more deeply into the use of genomics, and custom assays.

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