Results 141 to 150 of about 6,242 (173)

Abstract 6462: Somatic mutational profile in MUTYH- associated colorectal cancers (MUTYH-CRCs)

Cancer Research
Abstract Background: Biallelic inactivation of MUTYH leads to hereditary predisposition to colorectal polyposis and CRC. Herein we evaluated co-alterations in somatic next-generation sequencing (NGS) in patients with MUTYH-CRC, mainly KRAS G12C, high tumor mutational burden and microsatellite instability (MSI-H)/mismatch repair ...
David Kaldas, Tiago Biachi de Castria
openaire   +1 more source

MUTYH-associated polyposis (MAP)

2010
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors.
Nielsen, M., Hes, F.J.
openaire   +1 more source

Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis

Journal of Pathology, 2022
Pedro A F Galante, Anamaría Aranha Camargo, Fabiana Bettoni   +2 more
exaly  

MUTYH-Associated Polyposis: The Irish Experience>.

Irish medical journal, 2018
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland.
McVeigh, TP, Duff, M, Carroll, C, O'Shea, R, Bradley, L, Farrell, M, Gallagher, DJ, Clabby, C, Green, AJ   +8 more
openaire   +1 more source

MUTYH-Associated Polyposis

2010
N. Jones, M. Nielsen, S. Vogt, C. M. Tops, H. F. A. Vasen, F. J. Hes, S. Aretz, J. R. Sampson   +7 more
openaire   +2 more sources

MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer

Diagnostics, 2021
Megan Leigh Hutchcraft, , Holly H Gallion   +2 more
exaly  

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

International Journal of Cancer, 2016
, Robert Haile, Christophe Rosty
exaly  

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

Carcinogenesis, 2005
Chanjuan Shi, Oliver Sieber, James Eshleman   +2 more
exaly  

[Inherited mutations of MUTYH and colorectal cancer].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2008
MUTYH, one of base-excision repair enzymes, is associated with human genetic disorders. Inherited biallelic mutations in the human MUTYH gene are responsible for an autosomal recessive syndrome-adenomatous colorectal polyposis (MUTYH associated polyposis, MAP), which significantly increases the risk of colorectal cancer (CRC). In this article we review
openaire   +1 more source

Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH

Gastroenterology, 2009
Julian Sampson, Stefan Aretz, Maartje Nielsen   +2 more
exaly