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 BRCA2 gene. Humans carrying mutations in the genes BRCA1 and BRCA2 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 BRCA1 and BRCA2 variants that clearly disrupt the gene product.

The test established by the National Cancer Institute was able to classify 17 sequence variants of BRCA2 using murine embryonic stem cells and artificial chromosomes of bacteria. It is based on human BRCA2's ability to complement the loss of endogenous BRCA2 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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