Cargando…

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population

BACKGROUND: Identifying genetic disease-susceptible individuals through population screening is considered as a promising approach for disease prevention. DNA mismatch repair (MMR) genes including MLH1, MSH2, MSH6 and PMS2 play essential roles in maintaining microsatellite stability through DNA mism...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Li, Qin, Zixin, Huang, Teng, Tam, Benjamin, Ruan, Yongsen, Guo, Maoni, Wu, Xiaobing, Li, Jiaheng, Zhao, Bojin, Chian, Jia Sheng, Wang, Xiaoyu, Wang, Lei, Wang, San Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Cancer Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252855/ https://www.ncbi.nlm.nih.gov/pubmed/34172528 http://dx.doi.org/10.1136/jmedgenet-2021-107886

Ejemplares similares

Ethnic‐specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population
por: Qin, Zixin, et al.
Publicado: (2022)

Assessment of mismatch repair deficiency in ovarian cancer
por: Crosbie, Emma J, et al.
Publicado: (2021)

Germline variation in BRCA1/2 is highly ethnic‐specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients
por: Bhaskaran, Shanmuga Priya, et al.
Publicado: (2019)

TP53 germline pathogenic variants in modern humans were likely originated during recent human history
por: Kou, Si Hoi, et al.
Publicado: (2023)

Human BRCA pathogenic variants were originated during recent human history
por: Li, Jiaheng, et al.
Publicado: (2022)

Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers
por: Evans, D Gareth, et al.
Publicado: (2022)

Colorectal cancer intrinsic subtypes predict chemotherapy benefit, deficient mismatch repair and epithelial-to-mesenchymal transition
por: Roepman, Paul, et al.
Publicado: (2014)

Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy
por: Mas-Ponte, David, et al.
Publicado: (2022)

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer
por: Bugoye, Fidelis Charles, et al.
Publicado: (2023)

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations
por: Qin, Zixin, et al.
Publicado: (2022)

Mismatch repair status between primary colorectal tumor and metastatic tumor, a retrospective consistent study
por: Wang, Zheng, et al.
Publicado: (2019)

Evaluation of yield and experiences of age‐related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome
por: Vos, Janet R., et al.
Publicado: (2020)

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
por: Guerrini-Rousseau, Léa, et al.
Publicado: (2022)

The dual nature of mismatch repair as antimutator and mutator: for better or for worse
por: Bak, Sara Thornby, et al.
Publicado: (2014)

Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations
por: Sa, Jason K., et al.
Publicado: (2019)

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort
por: Chian, Jiasheng, et al.
Publicado: (2021)

Survival of Patients with Deficient Mismatch Repair Versus Proficient Mismatch Repair Metastatic Colorectal Cancer Receiving Curative-Intent Local Treatment of Metastases in a Nationwide Cohort
por: Zwart, Koen, et al.
Publicado: (2023)

Impact of age and mismatch repair status on survival in colorectal cancer
por: Li, Pan, et al.
Publicado: (2017)

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
por: Thompson, Bryony A., et al.
Publicado: (2020)

Clinical spectrum and pleiotropic nature of CDH1 germline mutations
por: Figueiredo, Joana, et al.
Publicado: (2019)

Tumor Frameshift Mutation Proportion Predicts Response to Immunotherapy in Mismatch Repair‐Deficient Prostate Cancer
por: Sena, Laura A., et al.
Publicado: (2020)

Comprehensive investigating of mismatch repair genes (MMR) polymorphisms in participants with chronic hepatitis B virus infection
por: Ma, Ning, et al.
Publicado: (2023)

Programmed death‐ligand 1 expression in gastric cancer: correlation with mismatch repair deficiency and HER2‐negative status
por: Wang, Lei, et al.
Publicado: (2018)

Speciation of Genes and Genomes: Conservation of DNA Polymorphism by Barriers to Recombination Raised by Mismatch Repair System
por: Radman, Miroslav
Publicado: (2022)

Perioperative Chemotherapy Could Not Improve the Prognosis of Gastric Cancer Patients With Mismatch Repair Deficiency: A Multicenter, Real-World Study
por: Zhao, Lulu, et al.
Publicado: (2023)

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
por: Fan, Yanjie, et al.
Publicado: (2018)

Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
por: Talseth‐Palmer, Bente A., et al.
Publicado: (2016)

Mismatch repair-signature mutations activate gene enhancers across human colorectal cancer epigenomes
por: Hung, Stevephen, et al.
Publicado: (2019)

Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers
por: O'Kane, Grainne M., et al.
Publicado: (2017)

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification
por: Tam, Benjamin, et al.
Publicado: (2023)

Prevalence of Lynch syndrome in women with mismatch repair‐deficient ovarian cancer
por: Hodan, Rachel, et al.
Publicado: (2020)

Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning
por: Huang, Jian, et al.
Publicado: (2019)

Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome
por: Shaukat, Zunaira, et al.
Publicado: (2020)

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies
por: Bin Naeem, Sameen, et al.
Publicado: (2023)

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
por: Buffet, Alexandre, et al.
Publicado: (2020)

BRAF Mutations Are Associated with Poor Survival Outcomes in Advanced-stage Mismatch Repair-deficient/Microsatellite High Colorectal Cancer
por: Tan, Elaine, et al.
Publicado: (2022)

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients
por: Kiyozumi, Yoshimi, et al.
Publicado: (2019)

Reduced Fhit expression is associated with mismatch repair deficiency in human advanced colorectal carcinoma
por: Andachi, H, et al.
Publicado: (2002)

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants
por: Chian, Jia Sheng, et al.
Publicado: (2023)

Combination of lysine‐specific demethylase 6A (KDM6A) and mismatch repair (MMR) status is a potential prognostic factor in colorectal cancer
por: Chen, Xiaying, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_79uuvr0bfepnjc0b0oa5qs3s7p