Results 21 to 30 of about 2,323 (154)

Increased prevalence of Barrett's esophagus in patients with MUTYH-associated polyposis (MAP). [PDF]

Fam Cancer, 2020
AbstractBarrett’s oesophagus (BE) has been associated with an increased risk of both colorectal adenomas and colorectal cancer. A recent investigation reported a high frequency of BE in patients with adenomatous polyposis coli (APC)-associated polyposis (FAP).
Daans CG, Ghorbanoghli Z, Velthuizen ME, Vasen HFA, Offerhaus GJA, Lacle MM, Siersema PD, Ausems MGEM, Boonstra JJ.   +8 more
europepmc   +10 more sources

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

The Turkish Journal of Gastroenterology, 2022
Background: Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant ...
Esra Arslan Ateş, Ceren Alavanda, Şenol Demir, Çağlayan Keklikkıran, Wafi Attaallah, Osman Cavit Özdoğan, Ahmet İlter Güney   +6 more
doaj   +1 more source

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer [PDF]

Annals of Coloproctology, 2021
The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories;
Jin Cheon Kim, Walter F. Bodmer
doaj   +1 more source

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. [PDF]

PLoS ONE, 2013
BACKGROUNDRecent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria for Serrated Polyposis Syndrome (SPS), are among those who carry germline mutations in genes associated with polyposis ...
Mark Clendenning, Joanne P Young, Michael D Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D Buchanan   +12 more
doaj   +1 more source

MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer

Diagnostics, 2021
Approximately 18% of ovarian cancers have an underlying genetic predisposition and many of the genetic alterations have become intervention and therapy targets.
Megan L. Hutchcraft, Holly H. Gallion, Jill M. Kolesar   +2 more
doaj   +1 more source

Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights

Best Practice & Research Clinical Gastroenterology, 2022
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients.
Aelvoet, Arthur S., Buttitta, Francesco, Ricciardiello, Luigi, Dekker, Evelien   +3 more
openaire   +3 more sources

Duodenal carcinoma in MUTYH-associated polyposis [PDF]

Journal of Clinical Pathology, 2006
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. In addition, duodenal adenomas and other extra-colonic manifestations have been described in MUTYH-associated polyposis (MAP) patients. We describe two patients with bi-allelic MUTYH gene mutations with duodenal carcinoma. The
Nielsen, M., Poley, J. W., Verhoef, S., Van Puijenbroek, M., Weiss, M. M., Burger, G. T., Dommering, C. J., Vasen, H. F.A., Kuipers, E. J., Wagner, A., Morreau, H., Hes, F. J.   +11 more
openaire   +5 more sources

The Mutyh base excision repair gene influences the inflammatory response in a mouse model of ulcerative colitis. [PDF]

PLoS ONE, 2010
BACKGROUND: The Mutyh DNA glycosylase is involved in the repair of oxidized DNA bases. Mutations in the human MUTYH gene are responsible for colorectal cancer in familial adenomatous polyposis.
Ida Casorelli, Tania Pannellini, Gabriele De Luca, Paolo Degan, Federica Chiera, Ivano Iavarone, Alessandro Giuliani, Alessia Butera, Monica Boirivant, Piero Musiani, Margherita Bignami   +10 more
doaj   +1 more source

MAP (MUTYH-Associated Polyposis ) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
The phenotype is often undistinguishable from that of autosomal dominant familial adenomatous polyposis (FAP) caused by mutations in APC gene. The number of adenomas is often lower in MAP (from 5 to more than 100), and affected patients are often sporadic cases.
B Toschi, M Genuardi
openaire   +1 more source

Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome

Non-coding RNA Research, 2019
The human gene MUTYH codes for a DNA glycosylase involved in the repair of oxidative DNA damage. Faulty MUTYH protein activity causes the accumulation of G→T transversions due to unrepaired 8-oxoG:A mismatches.
Zainularifeen Abduljaleel, Mohammad Athar, Faisal A. Al-Allaf, Saied Al-Dehlawi, Jose R. Vazquez   +4 more
doaj   +1 more source