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 …
screening is considered as a promising approach for disease prevention. DNA mismatch …
[HTML][HTML] Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature
L Zhang, SP Bhaskaran, T Huang, H Dong… - European Journal of …, 2020 - Elsevier
Purpose DNA mismatch repair (MMR) genes play important roles in maintaining genome
stability. Mutations in MMR genes disrupt their mismatch repair function, cause genome …
stability. Mutations in MMR genes disrupt their mismatch repair function, cause genome …
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity
S Li, D Qian, BA Thompson, S Gutierrez… - Journal of medical …, 2020 - jmg.bmj.com
Background Pathogenic variants in mismatch repair (MMR) genes (MLH1, MSH2, MSH6
and PMS2) increase risk for Lynch syndrome and related cancers. We quantified tumour …
and PMS2) increase risk for Lynch syndrome and related cancers. We quantified tumour …
[HTML][HTML] Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
M Zhang, T Chen - Hereditary cancer in clinical practice, 2021 - Springer
DNA mismatch repair (MMR) genes play an important role in maintaining genome stability.
Germline mutations in MMR genes disrupt the mismatch repair function and cause genome …
Germline mutations in MMR genes disrupt the mismatch repair function and cause genome …
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients
Y Kiyozumi, H Matsubayashi, Y Horiuchi… - Cancer …, 2019 - Wiley Online Library
Background Lynch syndrome (LS) is the commonest inherited cancer syndrome caused by
pathogenic variants of germline DNA mismatch repair (g. MMR) genes. Genome‐wide …
pathogenic variants of germline DNA mismatch repair (g. MMR) genes. Genome‐wide …
Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients
Mismatch repair (MMR) genes are among of the most important genes associated with
colorectal cancer (CRC). Single-nucleotide polymorphisms (SNPs) are generally thought to …
colorectal cancer (CRC). Single-nucleotide polymorphisms (SNPs) are generally thought to …
The association between MLH1 -93 G>A polymorphism of DNA mismatch repair and cancer susceptibility: a meta-analysis
XM Pan, WZ Yang, GH Xu, P Bai, HJ Qin… - …, 2011 - academic.oup.com
DNA mismatch repair, known as a fundamentally biological pathway, plays key roles in
maintaining genomic stability, eliminating mismatch bases and preventing both mutagenesis …
maintaining genomic stability, eliminating mismatch bases and preventing both mutagenesis …
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional …
F Marín, J Canet-Hermida, V Bianchi, J Chung… - Clinical …, 2024 - academic.oup.com
Background Constitutional mismatch repair deficiency (CMMRD) is a rare and
extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic …
extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic …
[HTML][HTML] Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
Background Mismatch repair (MMR) system is evolutionarily conserved for genome stability
maintenance. Germline pathogenic variants (PVs) in MMR genes that lead to MMR …
maintenance. Germline pathogenic variants (PVs) in MMR genes that lead to MMR …
Determining the frequency of de novo germline mutations in DNA mismatch repair genes
Background Carriers of a germline mutation in a DNA mismatch repair (MMR) gene—that is,
persons with Lynch syndrome—have substantially high risks of colorectal (CRC) …
persons with Lynch syndrome—have substantially high risks of colorectal (CRC) …