Increased accuracy and diagnostic yield of a genetic cancer test

Measure impact of single amino acid substitutions

Genetic Testing PDF

Analyze variation in gene promoter regions

Despite such a pervasive impact, the analysis of genetic variants in gene promoters is not yet 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 used in the clinical management of patients with cancer. 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 controlling gene expressions such as p53 and c-Myc are major cancer drivers.

Five Facts

  • Gene expression is a major cancer mechanism
  • Promoters are a major controller of gene expression
  • There are few cancer diagnostics that look at promoters
  • There is no high-resolution approach to examine promoters
  • Heligenics promoter Gene Mutation Libraries (GMLs) are what’s needed for promoter diagnostics

There are only a few cancer diagnostics that look at promoters because there is no systematic approach

Cancer diagnostics examine mutations in just the protein-coding part of a gene

Heligenics GMLs can test the whole gene

Gene Mutation Libraries (GMLs) – the solution for determining the impact of variants on function and cell processes

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 called the GigaAssay, Heligenics produces what we call a Gene Mutation/Function Library (GMLs). Each GML measures the impact of each nucleotide substitution in the promoters on the expression of many key cancer genes. To individually test each nucleotide substitution in each gene by other approaches in human cells would be nearly impossible.

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