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.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway