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 …

[HTML][HTML] A Chinese family affected by lynch syndrome caused by MLH1 mutation

S Jia, M Zhang, Y Sun, H Yan, F Zhao, Z Li, J Ji - BMC Medical Genetics, 2018 - Springer
Background Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR)
genes, which accounts for 3–5% of colorectal cancer. The risks of several types of cancer …

Genotype–phenotype correlation in MMR mutation-positive families with Lynch syndrome

L Pérez-Cabornero, M Infante, E Velasco… - International journal of …, 2013 - Springer
Background Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by
heterozygous mutations in mismatch repair (MMR) genes. Approximately 85% of genetically …

[HTML][HTML] Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

H Ghaedi, SM Ramsheh, ME Omidvar, A Labbaf… - Genes & …, 2020 - Elsevier
Hereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant
cancer predisposition syndrome characterized by early onset of colorectal cancer and …

[HTML][HTML] Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

J Li, H Ni, X Wang, W Cheng, L Li, Y Cheng… - World Journal of …, 2024 - Springer
Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC)
syndrome. This condition is characterized by germline variants in DNA mismatch repair …

[HTML][HTML] Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch …

P Møller, T Seppälä, JG Dowty, S Haupt… - Hereditary cancer in …, 2022 - Springer
Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants
of the MMR genes in the PLSD and IMRC cohorts, of which only the former included …

[HTML][HTML] Advances in the study of Lynch syndrome in China

JY Lu, JQ Sheng - World Journal of Gastroenterology: WJG, 2015 - ncbi.nlm.nih.gov
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an autosomal
dominant genetic condition that has a high risk of colon cancer as well as other cancers due …

Associations of pathogenic variants in MLH1, MSH2, and MSH6 with risk of colorectal adenomas and tumors and with somatic mutations in patients with Lynch …

C Engel, A Ahadova, TT Seppälä, S Aretz… - Gastroenterology, 2020 - Elsevier
Background & Aims Lynch syndrome is caused by variants in DNA mismatch repair (MMR)
genes and associated with an increased risk of colorectal cancer (CRC). In patients with …

[HTML][HTML] A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study

QQ Sui, W Jiang, X Wu, Y Ling, Z Pan… - Journal of Zhejiang …, 2019 - ncbi.nlm.nih.gov
Abstract lynch syndrome (LS), an autosomal dominantly inherited disease previously known
as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal …

[PDF][PDF] Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients

V Zumstein, F Vinzens, A Zettl, K Heinimann… - Swiss medical …, 2016 - smw.ch
BACKGROUND: Germline mutations in DNA mismatch repair (MMR) genes MLH1, MSH2,
MSH6 and PMS2 cause autosomal dominantly inherited Lynch syndrome. Lynch syndrome …