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
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
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DOI: 10.1053/j.gastro.2017.02.014
Abstract: Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a noncoding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few… read more here.
Keywords: mixed polyposis; duplication; polyposis syndrome; syndrome ... See more keywords
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
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DOI: 10.1093/jjco/hyaa059
Abstract: Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In… read more here.
Keywords: mixed polyposis; germline bmpr1a; polyposis syndrome; japanese family ... 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
Serrated Polyposis Syndrome in a Young Adolescent Patient
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DOI: 10.1097/mpg.0000000000003546
Abstract: Serrated polyps are pathological neoplastic lesions in the colon with subtle gross morphology leading to underreporting during colonoscopy. While detection rates are increasing in average-risk adult screening colonoscopy, the rate of detection during pediatric colonoscopy… read more here.
Keywords: young adolescent; syndrome young; serrated polyposis; polyposis syndrome ... See more keywords
Germline variant testing in serrated polyposis syndrome
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DOI: 10.1111/jgh.15791
Abstract: Serrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG)… read more here.
Keywords: germline variant; gastroenterology; serrated polyposis; polyposis ... See more keywords
Serrated polyposis syndrome may go undiagnosed even in structured colorectal cancer screening programmes performed by endoscopists with otherwise good quality indices
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DOI: 10.1136/gutjnl-2017-315321
Abstract: We have read the article by Ijspeert et al with great interest as it comprises the largest series of colonoscopies concerning the serrated polyposis syndrome (SPS) published so far.1 SPS is characterised by multiple serrated… read more here.
Keywords: serrated polyposis; colorectal cancer; polyposis syndrome;
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
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DOI: 10.1136/jmg-2022-108684
Abstract: Background Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors… read more here.
Keywords: sps cases; germline; serrated polyposis; gene ... See more keywords
Gastrointestinal Polyps and Polyposis in Children: Experience of Endoscopic and Surgical Outcomes
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DOI: 10.1159/000508866
Abstract: Introduction: There are gaps in the literature regarding outcome of multiple polyps and dilemmas in the management issues in polyposis syndromes in children. Objective: We aimed to study the clinical behaviour of gastrointestinal (GI) polyps… read more here.
Keywords: polyps polyposis; multiple polyps; polyposis syndrome; gastrointestinal polyps ... See more keywords
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
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DOI: 10.1186/s13053-017-0082-9
Abstract: BackgroundSerrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway)… read more here.
Keywords: exome sequencing; syndrome sps; polyposis syndrome; early serrated ... 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