Measurement Technologies For Mutation Detection Tp53 Standards

According to the latest information provided by the publicly funded GeneTests website (http://www.genetests.org/), 928 diseases are currently tested for in medical genetics laboratories. Most of the current methods for the detection of mutations use PCR amplification technologies with subsequent analyte detection after electrophoretic separation or chromatographic separation of the products (11-15). Microarray technologies have also been used to detect DNA mutations (14). The US Food and Drug Administration (FDA) evaluates many of the innovations for commercial development of diagnostic tests. Although some have received approval, molecular diagnostic kits are rare. FDA approval of these technologies has been hampered, in part, by the lack of universal standards. New diagnostic assays emerge each year and their validation as accurate measurement technologies is critical for establishing the assay

Fig. 1. Most common TP53 point mutations in cancer. Shown is the frequency (in percent) of the mutation contained in each clone as reported to occur in various cancers. For example, the mutation of clone 1 occurs in 6.8% of all cancers associated with mutations in the TP53 gene (or the mutation occurs in 1200 of the almost 18,000 reported cases). Clones 9-11 represent less than 1% of mutations associated with cancer.

Fig. 1. Most common TP53 point mutations in cancer. Shown is the frequency (in percent) of the mutation contained in each clone as reported to occur in various cancers. For example, the mutation of clone 1 occurs in 6.8% of all cancers associated with mutations in the TP53 gene (or the mutation occurs in 1200 of the almost 18,000 reported cases). Clones 9-11 represent less than 1% of mutations associated with cancer.

Table 2

Summary of Location and Nature of Mutations in the Panel

Table 2

Summary of Location and Nature of Mutations in the Panel

Clone

Amino acid position

Type of mutation

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