[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 …

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

AK Win, MA Jenkins, DD Buchanan… - Journal of medical …, 2011 - jmg.bmj.com
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) …

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations

S Haraldsdottir, H Hampel, J Tomsic, WL Frankel… - Gastroenterology, 2014 - Elsevier
Background & Aims Patients with Lynch syndrome carry germline mutations in single alleles
of genes encoding the mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2; …

Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers

WRR Geurts‐Giele, CHM Leenen… - The Journal of …, 2014 - Wiley Online Library
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes,
resulting in microsatellite‐unstable tumours. Approximately 35% of suspected LS (sLS) …

The prevalence of germline mutations in Chinese colorectal cancer patients with mismatch repair deficiency.

Y Yuan, L Zhu, D Xu, J Haixing, Y Sun, PR Ding… - 2018 - ascopubs.org
e13518 Background: Mismatch repair deficiency (dMMR) assessed by microsatellite
instability (MSI) or immunohistochemistry (IHC) is a feature of Lynch syndrome, a major …

Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing

M Alqahtani, C Edwards, N Buzzacott, K Carpenter… - Familial cancer, 2018 - Springer
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair
(MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a …

Does a new model improve decisions about mismatch-repair genetic testing and Lynch syndrome identification?

DH Roukos, M Fatouros, E Tsianos… - Nature Clinical Practice …, 2006 - nature.com
Background It is important to identify any mutations in germline mismatch-repair (MMR)
genes at the time of diagnosis of colorectal cancer, as this affects management. Pragmatic …

Implication of DNA repair genes in Lynch-like syndrome

RM Xicola, JR Clark, T Carroll, J Alvikas, P Marwaha… - Familial cancer, 2019 - Springer
Many colorectal cancers (CRCs) that exhibit microsatellite instability (MSI) are not explained
by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes …

Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families

L Fu, J Sheng, X Li, P Jin, H Mu, M Han, J Huang… - Cellular oncology, 2013 - Springer
Background Lynch syndrome (or HNPCC) is a colorectal cancer syndrome caused by
germline mutations in either one of the DNA mismatch repair (MMR) genes hMLH1, hMSH2 …

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 …