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Page 1
Juvenile Polyposis Syndrome.
Larsen Haidle J, MacFarland SP, Howe JR. Larsen Haidle J, et al. 2003 May 13 [updated 2022 Feb 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 May 13 [updated 2022 Feb 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301642 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. ...Evaluations include molecular geneti …
CLINICAL CHARACTERISTICS: Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps …
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology. Syngal S, et al. Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Am J Gastroenterol. 2015. PMID: 25645574 Free PMC article. Review.
The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. ...This guideline sp …
The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provi …
Juvenile polyposis syndrome.
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ. Brosens LA, et al. World J Gastroenterol. 2011 Nov 28;17(44):4839-44. doi: 10.3748/wjg.v17.i44.4839. World J Gastroenterol. 2011. PMID: 22171123 Free PMC article. Review.
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. ...This review discusses clinical manifestations, genetics, pathogen …
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in …
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.
Gao XH, Li J, Zhao ZY, Xu XD, Du YQ, Yan HL, Liu LJ, Bai CG, Zhang W. Gao XH, et al. BMC Gastroenterol. 2020 Jun 1;20(1):167. doi: 10.1186/s12876-020-01238-7. BMC Gastroenterol. 2020. PMID: 32487124 Free PMC article. Review.
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. ...His mother had died of colon cancer. He was diagnosed with …
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile pol …
Juvenile polyposis syndrome.
Cichy W, Klincewicz B, Plawski A. Cichy W, et al. Arch Med Sci. 2014 Jun 29;10(3):570-7. doi: 10.5114/aoms.2014.43750. Epub 2014 Jun 27. Arch Med Sci. 2014. PMID: 25097590 Free PMC article.
Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with …
Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in …
Familial and hereditary gastric cancer, an overview.
Carneiro F. Carneiro F. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101800. doi: 10.1016/j.bpg.2022.101800. Epub 2022 May 4. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988963 Review.
There are three major hereditable syndromes that affect primarily the stomach: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) and familial intestinal gastric cancer (FIGC). HDGC is caused by germline mutations …
There are three major hereditable syndromes that affect primarily the stomach: hereditary diffuse gastric cancer (HDGC), gastric adenocarcin …
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G. Rebuzzi F, et al. Int J Mol Sci. 2023 Jan 21;24(3):2137. doi: 10.3390/ijms24032137. Int J Mol Sci. 2023. PMID: 36768460 Free PMC article. Review.
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this malignancy. Lynch syndrome and familial adenomatous polyposis are the best-known genetic diseases associated with hereditary colorectal …
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this mal …
Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.
Matsumoto T, Umeno J, Jimbo K, Arai M, Iwama I, Kashida H, Kudo T, Koizumi K, Sato Y, Sekine S, Tanaka S, Tanakaya K, Tamura K, Hirata K, Fukahori S, Esaki M, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y. Matsumoto T, et al. J Anus Rectum Colon. 2023 Apr 25;7(2):115-125. doi: 10.23922/jarc.2023-002. eCollection 2023. J Anus Rectum Colon. 2023. PMID: 37113581 Free PMC article. Review.
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. ...Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic with …
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastroint …
Smad4/DPC4.
McCarthy AJ, Chetty R. McCarthy AJ, et al. J Clin Pathol. 2018 Aug;71(8):661-664. doi: 10.1136/jclinpath-2018-205095. Epub 2018 May 2. J Clin Pathol. 2018. PMID: 29720405 Review.
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-beta) signaling via several pathways. ...However, smad4/DPC4 is al …
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threo …
Juvenile polyposis: Focus on less described manifestations.
Saurin JC, Calavas L, Caillot C. Saurin JC, et al. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101802. doi: 10.1016/j.bpg.2022.101802. Epub 2022 Aug 4. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988968 Review.
Recent international recommendations help in managing this very rare disease, and this management should probably be restricted to expert centers able to take care of the multiple manifestations and risks of these patients and families. This paper will focus on the poorly …
Recent international recommendations help in managing this very rare disease, and this management should probably be restricted to expert ce …
165 results