Anne Marie Jelsig and colleagues conduct gene panel sequencing expirements26 hamartomatous polyposis-associated genes on patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer. They identified several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4. Their results suggested that although some of the detected variants have been reported previously none could be definitely pathogenic or likely pathogenic.
Jelsig, Anne Marie et al. Scandinavian Journal of Gastroenterology.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague