Results 31 to 40 of about 14,968 (77)

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families [PDF]

, 2015
BACKGROUND: The overwhelming majority (approximately 80%) of individuals with classic familial adenomatous polyposis (FAP) exhibit mutations in the coding sequence of the adenomatous polyposis coli (APC) tumor suppressor gene. Families without detectable
Baxter, Melanie D, Chapman, William C, Davidson, Nicholas O, Goodfellow, Paul J, Kennedy, Susan M, Lin, Lawrence, Lin, Shin, Lin, Yiing, Zhang, Zhengyan   +8 more
core   +2 more sources

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients [PDF]

, 2005
Background Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products.
Markos Mihalatos, Angela Apessos, Hans Dauwerse, Voula Velissariou, Aristidis Psychias, Alexander Koliopanos, Konstantinos Petropoulos, John K Triantafillidis, Ioannis Danielidis, George Fountzilas, Niki J Agnantis, Georgios Nasioulas, J Groden, KW Kinzler, NS Fearnhead, M Mihalatos, C Beroud, LK Su, GS Charames, OM Sieber, LK Su, M Ponz de Leon, WS Samowitz, AL Moisio, L Spirio, M Montagna, A Wagner, X Cao, A Apessos, M Krawczak, SN Teraoka, L Varesco, M Mihalatos, JG Dauwerse, SJ Knight, RB Van der Luijt, AR Krainer, MB Shapiro, DR Davies, YL Wallis   +39 more
core   +1 more source

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

, 2015
BACKGROUND: In 30-50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, or POLE or POLD1, causing polymerase-proofreading ...
Adam, R., Aretz, S., Becker, T., Drichel, D., Hoffmann, P., Holinski-Feder, E., Holzapfel, S., Horpaopan, S., Kerick, M., Kirfel, J., Kristiansen, G., Laner, A., Lifton, R., Nöthen, M., Perner, S., Peters, S., Schweiger, M., Spier, I., Timmermann, B., Zhao, B.   +19 more
core   +1 more source

The Guanylate Cyclase C-cGMP Signaling Axis Opposes Intestinal Epithelial Injury and Neoplasia. [PDF]

, 2018
Guanylate cyclase C (GUCY2C) is a transmembrane receptor expressed on the luminal aspect of the intestinal epithelium. Its ligands include bacterial heat-stable enterotoxins responsible for traveler\u27s diarrhea, the endogenous peptide hormones ...
Rappaport, Jeffrey A., Waldman, Scott A.
core   +2 more sources

Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation [PDF]

, 2017
Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), being represented in about 10% of patients.
Evans, D. Gareth R., Froggatt, Nicola J., Hodgson, Shirley V., Maher, Eamonn R., Scott, Rodney J., Trembath, Richard C.   +5 more
core  

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas [PDF]

, 2004
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer.
Boavida, MG, Brehm, A, Brito, MJ, Castro e Sousa, F, Castro, C, Gaspar, I, Giria, J, Isidro, G, Jorge, R, Laranjeira, F, Leite, J, Marinho, C, Medeira, A, Morna, H, Pires, A, Ramos, JS, Regateiro, FJ, Soares, J, Teixeira, R   +18 more
core   +1 more source

Recognition and management of hereditary colorectal cancer syndromes [PDF]

, 2009
Over 1,900 colorectal tumors will arise in association with a hereditary colorectal cancer syndrome in Spain in 2009. The genetic defects responsible for the most common syndromes have been discovered in recent years. Genetic testing
Herraiz-Bayod, M.J. (Maite J.), Muñoz-Navas, M. (Miguel)   +1 more
core  

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience [PDF]

, 2014
BACKGROUND: Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade.
Anwer Nusliha, Binara Amarasinghe, Kemal Deen, Pramodh Chandrasinghe, Ushantha Dalpatadu   +4 more
core   +1 more source

Availability Of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis [PDF]

, 2014
Background: Mutations in the APC gene cause familial adenomatous polyposis (FAP), an autosomal dominant colorectal cancer predisposition associated with the development of hundreds to thousands of adenomatous colorectal polyps beginning in childhood or ...
Lewis, Andrea M
core  

In the Beginning There Was Colectomy: Current Surgical Options in Familial Adenomatous Polyposis [PDF]

, 2004
Multiple colonic polyps, almost guaranteed colorectal cancer by the age of forty-five and an increased risk of non-colonic cancers characterise the autosomal dominant condition Familial Adenomatous Polyposis (FAP) 1.
McGrath Daniel R, Spigelman Allan D
core   +2 more sources