Molecular screening of adenomatous gastrointestinal polyposis syndrome

DNA extracted from sixty subjects with clinical suspicion/diagnosis of polyposis and twenty health subjects were analyzed, using the NGS technique, for genes involved in the adenomatous polyposis. Patients n° 13 and 44 were also analyzed for genes involved in the hamartomatous polyposis. Two gene panels, one specific for the adenomatous polyposis syndromes, including 6 genes: APC (NM_000038.6), AXIN2 (NM_004655.3), MUTYH (NM_001048174.2), NTHL1 (NM_002528.7), POLD1 (NM_002691.4), and POLE (NM_006231.4) and another specific for the hamartomatous polyposis, including 10 genes (AKT1 (NM_001382430.1), BMPR1A (NM_004329.3), CDH1 (NM_004360.5), ENG (NM_001114753.3), PIK3CA (NM_006218.4), PTEN (NM_000314.8), SDHB (NM_003000.3), SDHD (NM_003002.4), SMAD4 (NM_005359.6), and STK11/LKB1(NM_000455.5), and previously described) were analyzed by next generation sequence technique using AmpliSeq Library PLUS for Illumina Kit (catalog ID: 20019101) according to the manufacturers’ instructions.