Patent ID: 9458505
Filing Date: 2016-10-04
CPC Classification: A61K,C12Q

Claim Text:
1. A method of diagnosing Cowden syndrome and Cowden-like Syndrome in a subject, the method comprising the steps of: (a) obtaining a biological sample from a subject; (b) determining the level of expression of the KILLIN gene in the biological sample, wherein the level of KILLIN gene expression is measured by detecting the methylation of a KILLIN promoter region by combined bisulfate restriction analysis, wherein the PCR primers used in the combined bisulfate restriction analysis comprise SEQ ID NO: 12 and SEQ ID NO: 13, wherein hypermethylation of the KILLIN promoter region indicates a lower level of KILLIN gene expression; (c) comparing the level of expression of the KILLIN gene in the biological sample to a control value for KILLIN gene expression; and (d) providing a diagnosis that the subject has an increased risk of having Cowden syndrome or Cowden-like syndrome if there is a lower level of expression of the KILLIN gene in the biological sample relative to the KILLIN expression control value.