Principal Investigator: Professor Michael Kolodney
West Virginia University, Morgantow, USA
Collaborating Institute –
DNAnexus, Inc. (USA)Tags: 46649, dermatology, follicular-cyst, pilar-cyst, trichelemmal-cyst, whole-exome-sequencing
Trichilemmal cysts, also known as pilar cysts, are second most common cyst of the skin. These lesions occur in about 5% of persons of European or South Asian ancestry and their removal is a common cutaneous surgical procedure. A trichilemmal cyst can rarely transform into cancer. These cysts are inherited in an autosomal dominant pattern but can also appear sporadically. Our laboratory has identified the mutation in a cancer suppressor gene that causes these cysts in most people. However, we want to discover the cause of these cysts in the small fraction of people who have trichilemmal cysts but lack this mutation. We also want to determine why some people with the inherited mutation do not develop cysts and if inherited mutations causing cysts much also increase risk for cancer.
Project extension – December 2019
To assess the effect of environmental variables among patients with c.1379G>A germ-line variant (SNP rs75495843) on the patient’s phenotype.
Last updated Mar 4, 2020