Diagnosis of Cowden and Cowden-like Syndrome by Detection of Decreased KILLIN Expression


What is it? What does it do?

The invention includes a diagnostic and prognostic means of using hyper-methylation analysis of the promoter region of KLLN encoding KILLIN, a novel tumor suppressor gene, whose transcriptional downregulation identifies patients who have heightened risk for breast and renal neoplasms when presenting with a PTEN mutation negative, Cowden Syndrome/Cowden-like syndrome (CS/CSL) background.

Why is it better?

  • Helps identify patients at higher risk of CS/CSL-related malignancy as individuals with KILLIN-promoter methylation had a 3X increased prevalence of breast cancer and a >2X increase of kidney cancer over those with germline PTEN mutations.
  • Clinical deployment of measuring the germline methylation of this new cancer predisposition gene can add to the sensitivity of molecular diagnosis and makes predictive testing possible.

What is its current status?

Prototype assay developed.





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