Clinical and Genetic Problems in Familial Intestinal Polyposis

Clinical and genetic problems in familial in-intestinal polyposis.

The history of a family suffering from familial intestinal polyposis is presented, showing how a delayed onset of symptoms together with a lack of knowledge of affected relatives may obscure the familial nature of the disease. The necessity of examining all accessible relatives, irrespective of their advancing years, is stressed. Further, it is shown that in the absence of any familial incidenc...

Familial intestinal polyposis.

Familial polyposis is of interest for its own sake as a sort of pathological curiosity and also in relation to the problem of cancer. The term " polyposis " is used to describe a widespread adenomatous proliferation of the intestinal mucous membrane, leading to the formation of multiple adenomata. It should not be applied to intestinal polyps of different histological structure, such as inflamm...

Genetic heterogeneity in familial juvenile polyposis.

Juvenile polyposis syndrome (JPS) is an autosomal dominant syndrome characterized by multiple gastrointestinal hamartomatous polyps in the absence of the extraintestinal features that are classic for other hamartomatous polyposis syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden disease (CD). About 50% of BRRS and >80% of CD demonstrate germ-line mutations in the tumor supp...

[Intestinal and extraintestinal manifestations in familial adenomatous polyposis].

Familijarna adenomatozna polipoza (FAP) je autozomno dominantni polipozni sindrom, odgovoran za pojavu oko 1% svih kolorektalnih karcinoma (CRC) . Ovaj sindrom se ispoljava kod 1/5 000 do 1/17 000 živorođene dece 2, 3 sa stopom penetracije od preko 90% . Zahvata podjednako oba pola i sve geografske lokalitete . Obolele osobe razvijaju 100−5 000 adenoma (prosečan broj adenoma > 1 000) tubularne ...

Clinical Studies on Familial Adenomatous Polyposis