Cargando…

The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome

INSTRUCTION: Lynch syndrome (LS) is the most common inherited cancer predisposition disorder of colorectal cancer (CRC) which is associated with pathogenic variants in 4 mismatch repair (MMR) genes. Here, we reported a multi-generation Chinese family clinically diagnosed with LS. METHODS: To identif...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Yiming, Yu, Lulu, Cui, Jiajia, Yin, Jiye, Wu, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Oncology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395827/ https://www.ncbi.nlm.nih.gov/pubmed/37538120 http://dx.doi.org/10.3389/fonc.2023.1131011

Ejemplares similares

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome
por: Li, Juyi, et al.
Publicado: (2020)

Cytoplasmic MSH2 Related to Genomic Deletions in the MSH2/EPCAM Genes in Colorectal Cancer Patients With Suspected Lynch Syndrome
por: Dong, Lin, et al.
Publicado: (2021)

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family
por: Yang, Ciyu, et al.
Publicado: (2023)

Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
por: Agiannitopoulos, Konstantinos, et al.
Publicado: (2019)

Lynch Syndrome-Associated Endometrial Cancer With Combined EPCAM-MSH2 Deletion: A Case Report
por: Huang, Rong, et al.
Publicado: (2022)

Novel MSH2 splice-site mutation in a young patient with Lynch syndrome
por: Liccardo, Raffaella, et al.
Publicado: (2018)

Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
por: Liccardo, Raffaella, et al.
Publicado: (2017)

A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
por: Giannoni, Ana Paula, et al.
Publicado: (2023)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
por: Schneider, Nayê Balzan, et al.
Publicado: (2018)

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
por: Houlleberghs, Hellen, et al.
Publicado: (2017)

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
por: Jia, Xiaoyan, et al.
Publicado: (2021)

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
por: Vostrukhina, Olga A., et al.
Publicado: (2022)

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
por: Dominguez-Valentin, Mev, et al.
Publicado: (2021)

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation
por: Perrier, Renee L, et al.
Publicado: (2010)

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
por: Roberts, Maegan E, et al.
Publicado: (2018)

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants
por: de Angelis de Carvalho, Nathália, et al.
Publicado: (2020)

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
por: Drost, Mark, et al.
Publicado: (2020)

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
por: Grandval, Philippe, et al.
Publicado: (2013)

Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families
por: Romero, Atocha, et al.
Publicado: (2013)

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome
por: Conner, Blair R., et al.
Publicado: (2019)

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
por: Walker, Romy, et al.
Publicado: (2023)

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2
por: Wu, Ding‐Wen, et al.
Publicado: (2020)

Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers
por: Janavicius, Ramunas, et al.
Publicado: (2012)

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
por: Moreno-Ortiz, Jose Miguel, et al.
Publicado: (2016)

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants
por: Wiik, Mariann Unhjem, et al.
Publicado: (2021)

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
por: Thodi, Georgia, et al.
Publicado: (2010)

Identification of new genetic alterations in MLH1, MSH2 and MSH6 using IHC and HRM analysis in Lynch syndrome-suspected patients
por: Mazurek, A, et al.
Publicado: (2012)

CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site
por: Yelskaya, Zarina, et al.
Publicado: (2016)

Multiple colorectal adenomas in Lynch syndrome
por: Jain, Ayushi, et al.
Publicado: (2022)

Lynch syndrome: from detection to treatment
por: Williams, Madeleine H., et al.
Publicado: (2023)

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
por: Sjursen, Wenche, et al.
Publicado: (2010)

Novel MSH2 Mutation in the First Report of a Vietnamese–American Kindred with Lynch Syndrome
por: Eskander, Ramez N., et al.
Publicado: (2015)

Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in MSH2+/- Carriers
por: Garrido-Navas, M. Carmen, et al.
Publicado: (2020)

A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family
por: Shao, Wei-Hua, et al.
Publicado: (2020)

Adrenal pheochromocytoma in a patient with Lynch Syndrome
por: Rodriguez, Katherine M., et al.
Publicado: (2022)

Updates in gynecologic care for individuals with lynch syndrome
por: Underkofler, Kaylee A., et al.
Publicado: (2023)

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
por: van der Post, R S, et al.
Publicado: (2010)

Lynch Syndrome-associated Mutations in MSH2 Alter DNA Repair and Checkpoint Response Functions In Vivo
por: Mastrocola, Adam S, et al.
Publicado: (2010)

A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma
por: Kabbage, Maria, et al.
Publicado: (2022)

Multi‐omic analysis in normal colon organoids highlights MSH4 as a novel marker of defective mismatch repair in Lynch syndrome and microsatellite instability
por: Devall, Matthew, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ogsi82umjqliofgu1amqmuotf9