Results 11 to 20 of about 33,043 (222)

Familial Adenomatous Polyposis [PDF]

Journal of Pediatric Genetics, 2016
Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract.
Alexia, Waller, Sarah, Findeis, Michael J, Lee   +2 more
openaire   +3 more sources

Risk of extracolonic malignancies and metachronous rectal cancer after colectomy and ileorectal anastomosis in familial adenomatous polyposis

Asian Journal of Surgery, 2022
Background: Analysis of long-term clinical outcomes of patients with familial adenomatous polyposis is critical in reducing or preventing the incidence of extracolonic malignancies after initial surgery.
Kazuhito Sasaki, Hiroaki Nozawa, Kazushige Kawai, Koji Murono, Shigenobu Emoto, Junko Kishikawa, Hiroaki Ishii, Yuichiro Yokoyama, Shinya Abe, Yuzo Nagai, Hiroyuki Anzai, Hirofumi Sonoda, Tetsuro Taira, Soichiro Ishihara   +13 more
doaj   +1 more source

Attenuated Familial Adenomatous Polyposis

Internal Medicine, 2023
A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP ...
Eizuka, Makoto, Toya, Yosuke, Kosaka, Takashi, Oizumi, Tomofumi, Morishita, Toshifumi, Kasugai, Satoshi, Yanai, Shunichi, Sugai, Tamotsu, Matsumoto, Takayuki   +8 more
openaire   +2 more sources

Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, MUTYH-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023
Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements.
A. N. Loginova, Yu. A. Shelygin, V. P. Shubin, A. M. Kuzminov, D. Yu. Pikunov, T. A. Saveleva, A. S. Tsukanov   +6 more
doaj   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Progression of duodenal adenomatosis in familial adenomatous polyposis: due to ageing of subjects and advances in technology [PDF]

, 2011
Familial adenomatous polyposis patients are at risk of duodenal cancer. Surveillance is indicated and the extent of duodenal polyposis is quantified by the Spigelman staging system.
Elisabeth M. H. Mathus-Vliegen, Karam S. Boparai, Evelien Dekker, Nan van Geloven   +3 more
core   +5 more sources

Acute WNT signalling activation perturbs differentiation within the adult stomach and rapidly leads to tumour formation [PDF]

, 2013
A role for WNT signalling in gastric carcinogenesis has been suggested due to two major observations. First, patients with germline mutations in adenomatous polyposis coli (APC) are susceptible to stomach polyps and second, in gastric cancer, WNT ...
A Gregorieff, A Horii, A Jung, A Novak, AC de Vries, AN Milne, AT Franco, B Kim, B Tycko, C Cavard, D Athineos, D M Pritchard, DM Parkin, E Half, E Tahara, EF Chan, G Gatta, H Guillen-Ahlers, H Ireland, H Luche, H Nagase, H Oshima, H Shibata, H Watanabe, H Zhang, HC Zheng, HJ Freeman, J Cordero, J Neumann, J Parsonnet, J Woodgett, JG Forte, K Miyazawa, K Oien, KF Becker, KW Kinzler, LK Bianchi, M Crabtree, M Iida, M Nakayama, M Shitashige, M Suzuki, M Suzuki, M Torbenson, MG Smith, MP Ebert, N Barker, N Barker, N Barker, N Barker, N Barker, N Harada, N Murata-Kamiya, N Uemura, O J Sansom, O Sokolova, O Tetsu, OJ Sansom, P Blache, P Correa, P Correa, P Lauren, P Salgueiro, P Soriano, PJ Guilford, R A Ridgway, R Kemp, R Poulsom, S Garrean, S Nakatsuru, S Patel, S Patel, S Radulescu, S Segditsas, S Sekine, SC Abraham, SC Abraham, SM Przemeck, SS Ng, T Gnad, T Oda, TC He, WM Clements, WS Park, XC He, Y Miyoshi, Y Park do, Z Spicer, Z Zhao   +88 more
core   +1 more source

Mesenchymal adenomatous polyposis coli plays critical and diverse roles in regulating lung development. [PDF]

, 2015
BackgroundAdenomatous polyposis coli (Apc) is a tumor suppressor that inhibits Wnt/Ctnnb1. Mutations of Apc will not only lead to familial adenomatous polyposis with associated epithelial lesions, but will also cause aggressive fibromatosis in ...
Bellusci, Saverio, Chen, Hui, Chiu, Joanne, El Agha, Elie, Luo, Yongfeng, Menke, Douglas B, Qian, Bang-Ping, Shi, Wei, Turcatel, Gianluca, Warburton, David   +9 more
core   +1 more source

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]

, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo, Bianchi, Simonetta, Bonanni, Bernardo, Bucalo, Agostino, Calistri, Daniele, Catucci, Irene, Coppa, Anna, Cortesi, Laura, Manoukian, Siranoush, Masala, Giovanna, Montagna, Marco, Ottini, Laura, Palli, Domenico, Peterlongo, Paolo, Radice, Paolo, Rizzolo, Piera, Russo, Antonio, Silvestri, Valentina, Spinelli, Alessandro Mauro, Tibiletti, Maria Grazia, Tommasi, Stefania, Valentini, Virginia, Varesco, Liliana, Viel, Alessandra, Zanna, Ines, Zelli, Veronica   +25 more
core   +3 more sources

Serrated Polyposis Syndrome: A Literature Review

Journal of Coloproctology, 2023
Serrated polyposis syndrome is considered the most prevalent colonic polyposis syndrome in the world. Its importance has been increasingly discussed due to the significant increase in the risk of developing colorectal cancer in its affected individuals ...
Guilherme Campos Stephanini, Nathan Assis Jordão Pinto, Jarbas Faraco, Paulo Alberto Falco Pires Correa   +3 more
doaj   +1 more source