Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

А im: to reveal the rate of large rearrangements in genes responsible for familial adenomatous polyposis, MUTYH -associated polyposis and Peutz–Jeghers syndrome. Materials methods. The MLPA method was used identification rearrangements. A total number 135 patients included study: 83 with a clinical diagnosis “familial polyposis”, 18 — suspected 34 “Peutz–Jeghers syndrome”. Results. Seven deletions one duplication APC gene were identified classic 9.6 % (8/83). In no found gene. Four STK11 (12 %, 4/34) detected Conclusion. For first time, expediency including detecting routine DNA test list Russian various hereditary syndromes is demonstrated. Routine use makes it possible increase frequency detection pathogenic variants above 90 %. At same need searching not justified.