C11181: Gene Mutations as Diagnostic Targets in Cancer
Novelty:
This discovery identifies the novel oncogenic mutations in various thyroid cancers that can be effective diagnostic markers for thyroid and other human cancers.
Value Proposition:
Cancer is the second most common cause of death in the industrialized world. Blood tests, imaging and biopsies are commonly performed screening tests to diagnose thyroid cancer. This invention is a patient stratifying technology that allows a previously unreported novel mutation in a thyroid cancer gene to serve as an effective diagnostic and prognostic marker. The main advantage of this technology is:
- Development of an effective biomarker for thyroid and other human cancers.
Technical Details:
JHU inventors performed a mutational analysis of a set of genes which included GNAQ, MMP8, AKT3, EGFR and PIK3R1 in thyroid cancer, melanoma and colon cancer samples to detect the presence of somatic mutation in these genes. The results from the study led to the observation of frequent SNP A259G (K87E) genotype switch in the proteoglycan binding domain of MMP8. The prevalence of this switch is seen in about 70-90% of various types of thyroid cancer samples. This significantly affects the function of MMP8 and its role in the invasion, metastasis, and ultimately clinicopathological outcomes of human cancers. This genetic variant can be effective and prognostic marker for different cancers.
Looking for Partners:
To develop & commercialize the technology as a target for anti cancer diagnostics.
Stage of Development:
Discovery
Data Availability:
Under CDA / NDA
Publications/Associated Cases:
Endocrine Pathology, Volume 22, Number 2, 97-102
