Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
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DOI: 10.1002/mgg3.1498
Abstract: Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causative sequence variants in around 90% of HHT… read more here.
Keywords: hereditary hemorrhagic; juvenile polyposis; hemorrhagic telangiectasia; polyposis syndrome ... See more keywords
A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Sign Up to like & getrecommendations! Published in 2022 at "Japanese journal of clinical oncology"
DOI: 10.1093/jjco/hyac189
Abstract: Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder caused by pathogenic germline variants of mainly SMAD4 or BMPR1A genes. Some patients with JPS, especially with SMAD4 variants, also develop hereditary, hemorrhagic telangiectasia (HHT).… read more here.
Keywords: germline; hemorrhagic telangiectasia; hereditary hemorrhagic; variant ... See more keywords
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review
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DOI: 10.1186/s12876-020-01238-7
Abstract: Background Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical… read more here.
Keywords: jps; juvenile polyposis; juvenile polyps; dysplasia ... See more keywords
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
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DOI: 10.1186/s13053-021-00207-9
Abstract: Abstract Juvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities. Methods Patients’ data were extracted retrospectively from 5 centers. Results… read more here.
Keywords: mutation; involvement; polyposis syndrome; juvenile polyposis ... See more keywords
Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report.
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DOI: 10.1213/xaa.0000000000000714
Abstract: Juvenile polyposis syndrome is an autosomal-dominant disorder characterized by the presence of hundreds of gastrointestinal polyps. The genes most commonly found are BMPR1A and SMAD4. The latter has been linked to vascular malformations and hereditary… read more here.
Keywords: aneurysm patent; atrial septal; polyposis syndrome; juvenile polyposis ... See more keywords
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
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DOI: 10.14309/ctg.0000000000000054
Abstract: OBJECTIVES: Loss-of-function mutations of BMPR1A cause juvenile polyposis syndrome (JPS), but large genomic deletions in BMPR1A are rare, reported in few families only, and data regarding the associated phenotype are limited. METHODS: We investigated clinical… read more here.
Keywords: large genomic; genomic deletion; polyposis syndrome; deletion ... See more keywords
Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report.
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DOI: 10.2169/internalmedicine.1612-23
Abstract: Although gastric juvenile polyposis (GJP) often coexists with gastric cancer, a preoperative accurate diagnosis is still difficult to obtain. A 70-year-old woman was referred for epigastralgia and anemia. Esophagogastroduodenoscopy with a conventional endoscope showed numerous… read more here.
Keywords: narrow band; gastric juvenile; endoscopy narrow; magnifying endoscopy ... See more keywords