Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant
disorder most often caused by mutation in the endoglin or ALK1 genes. A distinct syndrome …

Purpose Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited
cancer predisposition caused in approximately 50% of cases by pathogenic germline …

Background and study aims In most patients with juvenile polyposis Syndrome, it is possible
to detect a pathogenic germline variant in SMAD4 or BMPR1A. It is well known that patients …

Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype,
mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular …

Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis
syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of …

Juvenile polyposis (JP) is a rare familial syndrome characterized by the development of
numerous hamartomatous polyps of the gastrointestinal tract and by an increased risk of …

Hamartomatous polyposis syndromes (HPS) account for a small but appreciable proportion
of inherited gastrointestinal cancer predisposition syndromes; patients with HPS have an …

Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile
polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 …

METHODS: We describe a retrospective cohort of individuals with SMAD4 or BMPR1A
heterozygous germline variants, having≥ 10 cumulative colorectal adenomas and/or …

Background: The identification of germline mutations in juvenile polyposis (JP) families has
made presymptomatic genetic testing possible. In this study we report the results of genetic …