Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple polyps in colon. The main cause disease germline mutation APC gene. Here we report 4 unrelated FAP patients with different large deletions gene detected Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion exons 7-15, promoters B, A, and 5'-UTR region promoter B (in 2 patients). was not described literature earlier, so it for first time. In families deletion, could identify tendency decreasing age manifestation each next generation, contrast to previous one. incidence among Russian reached 4.8% our finding suggests need study this MLPA no after Sanger's sequencing.