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 deleti...

CONTEXT Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to p...

SUMMARY Our gastrointestinal tract is colonized by trillions of microbes. There growing recognition that commensal bacteria can promote the development colorectal adenomas and cancer. For example, bacterial plaques are strongly associated with in familial adenomatous polyposis (Science 2018;359:592-597), fusobacterium cancer liver metastasis.(Science 2017;358:1443-1448)

the inherited polyposis syndromes and colorectal carcinoma. Four patients are reported, to illustrate the wide spectrum of colonic polyps which may occur in multiple form in adults. Included are unusual cases of metaplastic and-juvenile polyposis. The subject is reviewed, and the need for accurate histological diagnosis is stressed. The possibility that the difference between familial adenomato...

Attenuated familial adenomatous polyposis (AFAP) is a subtype of a condition known as familial adenomatous polyposis [2] (called FAP or classic FAP). People with FAP or AFAP will have an increased number of adenomatous colon polyps during their lifetime and an increased risk of developing colorectal cancer [3]. An adenomatous polyp is a lump filled with the cells that make mucous and line the i...

Two main colorectal polyposis syndromes have been described, familial adenomatous polyposis and MUTYH-associated polyposis syndromes. Some polyposis remains unexplained: 20% of adenomatous polyposis and serrated polyposis. The aim of this study was to evaluate in a cohort of patients with unexplained polyposis whether a genetic defect could be detected. Individuals presenting polyposis with mor...

BACKGROUND Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gen...

Desmoid tumors, which are locally invasive with recurrence but without metastasis, are frequently observed in patients with familial adenomatous polyposis after abdominal surgery or during pregnancy. This study analyzed mutation of the adenomatous polyposis coli gene in 8 desmoid tumors from 7 familial adenomatous polyposis patients using polymerase chain reaction-single-strand conformation pol...