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 …
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 …
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) …
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
R Gallon, C Brekelmans, M Martin, V Bours… - npj Precision …, 2024 - nature.com
Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct
cancer syndromes caused, respectively, by mono-and bi-allelic germline mismatch repair …
cancer syndromes caused, respectively, by mono-and bi-allelic germline mismatch repair …
[HTML][HTML] Germline and tumor sequencing as a diagnostic tool to resolve suspected Lynch syndrome
Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of
pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene …
pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene …
A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
M Drost, Y Tiersma, BA Thompson… - Genetics in …, 2019 - nature.com
Purpose To enhance classification of variants of uncertain significance (VUS) in the DNA
mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed …
mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed …
Gene-specific features (MLH1, MSH2, MSH6, PMS2) of mismatch repair (MMR) protein expression and somatic mutations (muts), microsatellite instability (MSI) and …
505 Background: MSI is a tumor biomarker for immunotherapy efficacy that is closely
associated w/deficient MMR, and is also variably associated w/somatic muts of the MMR …
associated w/deficient MMR, and is also variably associated w/somatic muts of the MMR …
Early age of onset and broad cancer spectrum persist in MSH6-and PMS2-associated Lynch syndrome
Purpose This study aimed to characterize MSH6/PMS2-associated mismatch repair–
deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines …
deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines …
[HTML][HTML] Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer
A Latham, P Srinivasan, Y Kemel, J Shia… - Journal of clinical …, 2019 - ncbi.nlm.nih.gov
PURPOSE Microsatellite instability (MSI) and/or mismatch repair deficiency (MMR-D) testing
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
syndrome and result in different but imprecisely known cancer risks. This study aimed to …