Literature DB >> 29330307

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Isabel Quintana1,2,3, Raquel Mejías-Luque4,5, Mariona Terradas1,2, Matilde Navarro1,2,3, Virginia Piñol6,7, Pilar Mur1,2,3, Sami Belhadj1,2,3, Elia Grau1,2, Esther Darder8, Ares Solanes9, Joan Brunet1,3,8, Gabriel Capellá1,2,3, Markus Gerhard4,5, Laura Valle1,2,3.   

Abstract

Entities:  

Keywords:  cancer genetics; cancer susceptibility; cancer syndromes; colonic polyps; mutation screening

Mesh:

Substances:

Year:  2018        PMID: 29330307     DOI: 10.1136/gutjnl-2017-315733

Source DB:  PubMed          Journal:  Gut        ISSN: 0017-5749            Impact factor:   23.059


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  18 in total

Review 1.  Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

Authors:  Laura Valle; Eduardo Vilar; Sean V Tavtigian; Elena M Stoffel
Journal:  J Pathol       Date:  2019-02-20       Impact factor: 7.996

2.  Gastrointestinal Polyposis in Pediatric Patients.

Authors:  Suzanne P MacFarland; Kristin Zelley; Bryson W Katona; Benjamin J Wilkins; Garrett M Brodeur; Petar Mamula
Journal:  J Pediatr Gastroenterol Nutr       Date:  2019-09       Impact factor: 2.839

3.  Colorectal carcinoma occurring via the adenoma-carcinoma pathway in patients with serrated polyposis syndrome.

Authors:  Fumika Nakamura; Yasushi Sato; Koichi Okamoto; Yasuteru Fujino; Yasuhiro Mitsui; Kaizo Kagemoto; Tomoyuki Kawaguchi; Hiroshi Miyamoto; Naoki Muguruma; Tomoko Sonoda; Koichi Tsuneyama; Tetsuji Takayama
Journal:  J Gastroenterol       Date:  2022-02-23       Impact factor: 7.527

Review 4.  Diagnosis, epidemiology and management of serrated polyposis syndrome: a comprehensive review of the literature.

Authors:  Fotios S Fousekis; Ioannis V Mitselos; Dimitrios K Christodoulou
Journal:  Am J Transl Res       Date:  2021-06-15       Impact factor: 4.060

Review 5.  Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.

Authors:  Benjamin Stern; Thomas McGarrity; Maria Baker
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12

Review 6.  Hereditary or Not? Understanding Serrated Polyposis Syndrome.

Authors:  Peter P Stanich; Rachel Pearlman
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12

7.  Ulcerative Colitis With Concomitant Serrated Polyposis Syndrome: A Case Report and Literature Review.

Authors:  Mahmoud M Mansour; Zachary D Smith; Yezaz Ghouri; Veysel Tahan
Journal:  Cureus       Date:  2021-04-20

Review 8.  Genomic landscape of colorectal carcinogenesis.

Authors:  Jin Cheon Kim; Walter F Bodmer
Journal:  J Cancer Res Clin Oncol       Date:  2022-01-20       Impact factor: 4.553

9.  NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Authors:  Sami Belhadj; Isabel Quintana; Pilar Mur; Pau M Munoz-Torres; M Henar Alonso; Matilde Navarro; Mariona Terradas; Virginia Piñol; Joan Brunet; Victor Moreno; Conxi Lázaro; Gabriel Capellá; Laura Valle
Journal:  Sci Rep       Date:  2019-06-21       Impact factor: 4.379

Review 10.  Mutations and mechanisms of WNT pathway tumour suppressors in cancer.

Authors:  Jeroen M Bugter; Nicola Fenderico; Madelon M Maurice
Journal:  Nat Rev Cancer       Date:  2020-10-23       Impact factor: 60.716

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