Results 31 to 40 of about 2,323 (154)

MUTYH is a potential prognostic biomarker and correlates with immune infiltrates in hepatocellular carcinoma

Liver Research, 2022
Background: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related death worldwide. The development of biomarkers for early detection and monitoring of HCC has not shown significant progress.
Fan Yang, Qinghai Lian, Beibei Ni, Xiusheng Qiu, Yizhan He, Xiaoguang Zou, Fangping He, Wenjie Chen   +7 more
doaj   +1 more source

Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2019
Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps.Materials and methods.
A. S. Tsukanov, V. P. Shubin, A. M. Kuzminov, M. Kh. Toboeva, T. A. Savelyeva, V. N. Kashnikov, Yu. A. Shelygin   +6 more
doaj   +1 more source

MUTYH-associated polyposis (MAP), the syndrome implicating Base Excision Repair in inherited predisposition to colorectal tumors

Frontiers in Oncology, 2012
In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations of MUTYH, a gene encoding a base excision repair (BER) protein that counteracts the DNA damage induced by the ...
Tiziana eVenesio, Antonella eBalsamo, Vito eD'Agostino, Guglielmina Nadia Ranzani   +3 more
doaj   +1 more source

Genetic variants in MUTYH are not associated with endometrial cancer risk

Hereditary Cancer in Clinical Practice, 2009
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant inherited predisposition to a number of epithelial cancers, most notably colorectal and endometrial cancer.
Ashton Katie A, Proietto Anthony, Otton Geoffrey, Symonds Ian, Scott Rodney J   +4 more
doaj   +1 more source

Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report

Clinical Case Reports, 2023
Key clinical message Here we reported a particular case of MUTYH‐associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH ...
Bei Zhao, Wenqi Sun, Yunrong Wang, Xinrong Wu, Yifan Li, Weiwei Wang, Muhan Ni, Peng Yan, Xiaotan Dou, Lei Wang, Min Chen   +10 more
doaj   +1 more source

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Frontiers in Oncology, 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.
Piera Rizzolo, Valentina Silvestri, Agostino Bucalo, Veronica Zelli, Virginia Valentini, Irene Catucci, Ines Zanna, Giovanna Masala, Simonetta Bianchi, Alessandro Mauro Spinelli, Stefania Tommasi, Maria Grazia Tibiletti, Antonio Russo, Liliana Varesco, Anna Coppa, Daniele Calistri, Laura Cortesi, Alessandra Viel, Bernardo Bonanni, Jacopo Azzollini, Siranoush Manoukian, Marco Montagna, Paolo Radice, Domenico Palli, Paolo Peterlongo, Laura Ottini   +25 more
doaj   +1 more source

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

Frontiers in Genetics, 2020
MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions
Katarína Fabišíková, Olívia Hamidová, Regína Lohajová Behulová, Katarína Závodná, Petra Priščáková, Vanda Repiská   +5 more
doaj   +1 more source

AXIN2-Associated Adenomatous Colorectal Polyposis

Journal of Coloproctology, 2021
Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ∼ 3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP).
Bruno Augusto Alves Martins, Reinaldo Falluh Filho, Romulo Medeiros de Almeida, Renata Lazari Sandoval   +3 more
doaj   +1 more source

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

EBioMedicine, 2017
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated ...
Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B. Alexandrov, Margherita Bignami   +24 more
doaj   +1 more source

High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

BMC Cancer, 2011
Background MUTYH-associated polyposis (MAP) is an autosomal recessive form of intestinal polyposis predisposing to colorectal carcinoma. High resolution melting analysis (HRMA) is a mutation scanning method that allows detection of heterozygous sequence ...
Sestini Roberta, Orlando Claudio, Alvau Antonio, Crucianelli Francesca, Tricarico Rossella, Tonelli Francesco, Valanzano Rosa, Genuardi Maurizio   +7 more
doaj   +1 more source