Mouse embryonic stem cell–based functional assay to evaluate mutations in BRCA2

Researchers of the National Cancer Institute (USA) recently reported the establishment of a simple, versatile and reliable assay to test for the functional significance of mutations in the gene. Humans carrying mutations in the genes and have a risk of 80% to develop breast cancer by the age of 70. Reliable identification of mutation carriers can reduce mortality through preventive measures and early diagnosis. The tests available until now could only detect and variants that clearly disrupt the gene product.

The test established by the National Cancer Institute was able to classify 17 sequence variants of using murine embryonic stem cells and artificial chromosomes of bacteria. It is based on human 's ability to complement the loss of endogenous in murine embryonic stem cells.

This new technique might also be of use for the functional analysis of mutations that occur in genes connected to other human diseases.

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