Cargando…

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

Recently, biallelic germline variants of the DNA glycosylase genes MUTYH and NTHL1 were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used exome sequencing to investigate clinically well-defined adenoma...

Descripción completa

Detalles Bibliográficos
Autores principales:	Olkinuora, Alisa Petriina, Mayordomo, Andrea Constanza, Kauppinen, Anni Katariina, Cerliani, María Belén, Coraglio, Mariana, Collia, Ávila Karina, Gutiérrez, Alejandro, Alvarez, Karin, Cassana, Alessandra, Lopéz-Köstner, Francisco, Jauk, Federico, García-Rivello, Hernán, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Nieminen, Taina Tuulikki, Vaccaro, Carlos Alberto, Pavicic, Walter Hernán, Peltomäki, Päivi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Oncology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650540/ https://www.ncbi.nlm.nih.gov/pubmed/36387175 http://dx.doi.org/10.3389/fonc.2022.870863

Ejemplares similares

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
por: Olkinuora, Alisa, et al.
Publicado: (2018)

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis
por: Nieminen, Taina T., et al.
Publicado: (2016)

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results
por: Olkinuora, Alisa, et al.
Publicado: (2020)

Single-center “Argentine” analysis of post-transplant lymphoproliferative disorders: incidence, histopathological characteristics and EBV status
por: Warley, Fernando, et al.
Publicado: (2023)

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia
por: Olkinuora, Alisa, et al.
Publicado: (2023)

Synonymous mutation adenomatous polyposis coli(Δ486s) affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation-negative familial adenomatous polyposis
por: Liu, Wei Qing, et al.
Publicado: (2018)

Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis
por: Mäki-Nevala, Satu, et al.
Publicado: (2021)

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
por: Al Amrani, Fatema, et al.
Publicado: (2020)

From APC to the genetics of hereditary and familial colon cancer syndromes
por: Olkinuora, Alisa P, et al.
Publicado: (2021)

Involvement of N-methylpurine DNA glycosylase in resistance to temozolomide in patient-derived glioma cells
por: Serrano-Heras, Gemma, et al.
Publicado: (2020)

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression
por: Mäki-Nevala, Satu, et al.
Publicado: (2018)

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy
por: Sondheimer, Neal, et al.
Publicado: (2023)

Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer
por: Alvarez, Karin, et al.
Publicado: (2021)

LINE-1 hypomethylation in familial and sporadic cancer
por: Pavicic, Walter, et al.
Publicado: (2012)

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations
por: Porkka, Noora, et al.
Publicado: (2017)

Noncatalytic Domains in DNA Glycosylases
por: Torgasheva, Natalia A., et al.
Publicado: (2022)

Prevalence, Cell Tropism, and Clinical Impact of Human Parvovirus Persistence in Adenomatous, Cancerous, Inflamed, and Healthy Intestinal Mucosa
por: Xu, Man, et al.
Publicado: (2022)

Long-term survival among colorectal cancer patients in Finland, 1991–2015: a nationwide population-based registry study
por: Olenius, Tobias, et al.
Publicado: (2022)

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
por: Koskenvuo, Juha W., et al.
Publicado: (2021)

Cigarette smoking, dietary habits and genetic polymorphisms in GSTT1, GSTM1 and CYP1A1 metabolic genes: A case-control study in oncohematological diseases
por: Cerliani, María Belén, et al.
Publicado: (2016)

DNA glycosylases: in DNA repair and beyond
por: Jacobs, Angelika L., et al.
Publicado: (2011)

Mechanisms of glycosylase induced genomic instability
por: Eyler, Daniel E., et al.
Publicado: (2017)

Inhibitors of DNA Glycosylases as Prospective Drugs
por: Mechetin, Grigory V., et al.
Publicado: (2020)

Familial adenomatous polyposis
por: Half, Elizabeth, et al.
Publicado: (2009)

The prognostic value of extramural venous invasion in preoperative MRI of rectal cancer patients
por: Lehtonen, Taru M., et al.
Publicado: (2022)

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? – Somatic mutational profiles vs. ovarian and colorectal carcinomas
por: Porkka, Noora K., et al.
Publicado: (2020)

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis
por: Wang, Dan, et al.
Publicado: (2019)

Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis
por: Pasanen, Annukka, et al.
Publicado: (2022)

Mitochondrial inhibition of uracil-DNA glycosylase is not mutagenic
por: Kachhap, Sushant, et al.
Publicado: (2004)

Crystal structure of mimivirus uracil-DNA glycosylase
por: Kwon, Eunju, et al.
Publicado: (2017)

Multiple Adenomatous Duodenal Polyposis
por: Zádorová, Zdena, et al.
Publicado: (2013)

Familial adenomatous polyposis of the colon
por: Plawski, Andrzej, et al.
Publicado: (2013)

Attenuated Familial Adenomatous Polyposis
por: Eizuka, Makoto, et al.
Publicado: (2023)

Editorial: Advances in genetics and molecular diagnosis in colorectal, stomach, and pancreatic cancer
por: Vaccaro, Carlos Alberto, et al.
Publicado: (2022)

A thermophilic 8-oxoguanine DNA glycosylase from Thermococcus barophiluss Ch5 is a new member of AGOG DNA glycosylase family : Biochemical and functional characterization of archaeal 8oxoG DNA glycosylase
por: Wang, Lei, et al.
Publicado: (2022)

MagT1 helps a glycosylase gain acceptance
por: Short, Ben
Publicado: (2014)

The Role of 8-Oxoguanine DNA Glycosylase-1 in Inflammation
por: Ba, Xueqing, et al.
Publicado: (2014)

Thymine DNA glycosylase as a novel target for melanoma
por: Mancuso, Pietro, et al.
Publicado: (2019)

Computational and Experimental Druggability Assessment of Human DNA Glycosylases
por: Michel, Maurice, et al.
Publicado: (2019)

Restriction glycosylases: involvement of endonuclease activities in the restriction process
por: Zhang, Yingbiao, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_58537k2flbnmunpaktla1ug6bu