Increased accuracy and diagnostic yield of a genetic cancer test

Measure impact of each nucleotide substitutions in a gene promoter

Analyze variation in gene promoter regions

Despite such a pervasive impact, the analysis of genetic variants in gene promoters is not yet routinely used but readily applied to the diagnosis and treatment of cancer. The key limitation is the lack of extensive knowledge about promoter variants. The functions of genes are intensively studied from both basic science and applied translational perspectives. It is amazing that gene promoter variants that control the expression of genes are not routinely used in the clinical management of patients with cancer; an exception is telomerase. Consider that there are over 70,000 scientific papers investigating promoters of cancer genes, dysregulation of tumor suppressor and protooncogene expression are established cancer mechanisms, and dozens of transcription factors control gene expressions for import drive genes such as TP53 and c-Myc.

Five Facts

  • Altered gene expression is a major cancer mechanism

  • Promoters are the major controller of gene expression

  • There are few cancer diagnostics that look at promoter variants

  • There is no high accuracy and throughput approach to assess the impact of variants in promoters

  • Heligenics promoter Mutation Effect on Gene Activity (MEGA-Map™) are what’s needed for promoter diagnostics

Mutation Effects on Gene Activity (MEGA-Maps™) are the solution for determining the impact of promoter variants

Telomerase is one of few example cancer diagnostics that uses variants in promoters because there is no systematic approach

Heligenics offers a new product with the measured impact of single nucleotide variants in the promoter region of genes. The licensees of these libraries will increase the accuracy and diagnostic yield of a genetic cancer test. Through a massively parallel in vivo process using the GigaAssay™ technology, Heligenics produces what we call a Mutation Effect on Gene Activity (MEGA-Map™). Each MEGA-Map™ measures the impact of each nucleotide substitution in the promoters on the expression of key cancer driver genes. To individually test each nucleotide substitution in each gene by other approaches in human cells would be nearly impossible.

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