Frequency of mismatch repair protein deficiency in a Puerto Rican population with colonic adenoma and adenocarcinoma

D Reverón, C Lopez, S Gutierrez… - Cancer Genomics & …, 2018 - cgp.iiarjournals.org
Background/Aim: Microsatellite instability (MSI) results from genetic alterations involving the
mismatch repair (MMR) genes MLH1, PSM2, MSH2, and MSH6. MSI has been implicated in …

Population carrier frequency of hMSH2 and hMLH1 mutations

MG Dunlop, SM Farrington, I Nicholl, L Aaltonen… - British journal of …, 2000 - nature.com
Abstract Knowledge of population carrier frequency for DNA mismatch repair (MMR) gene
mutations would contribute to understanding the burden of cancer due to genetic …

Clinical significance of mismatch repair gene expression in sporadic colorectal cancer

Z Sun, X Yu, H Wang, S Zhang… - Experimental and …, 2014 - spandidos-publications.com
Mismatch repair (MMR) genes play an important role in the occurrence and development of
sporadic colorectal cancer; however, the effect of MMR genes on clinicopathological …

Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns

E Fountzilas, T Papadopoulos, E Papadopoulou… - Diagnostics, 2024 - mdpi.com
Determination of microsatellite instability (MSI)/mismatch repair (MMR) status in cancer has
several clinical implications. Our aim was to integrate MSI/MMR status from patients tested in …

Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

B Meier, NV Volkova, Y Hong, P Schofield… - Genome …, 2018 - genome.cshlp.org
Throughout their lifetime, cells are subject to extrinsic and intrinsic mutational processes
leaving behind characteristic signatures in the genome. DNA mismatch repair (MMR) …

Different mutator phenotypes in Mlh1- versus Pms2-deficient mice

X Yao, AB Buermeyer, L Narayanan… - Proceedings of the …, 1999 - National Acad Sciences
Deficiencies in DNA mismatch repair (MMR) result in increased mutation rates and cancer
risk in both humans and mice. Mouse strains homozygous for knockouts of either the Pms2 …

Penetrance of colorectal cancer among mismatch repair gene mutation carriers: a meta-analysis

C Wang, Y Wang, KS Hughes… - JNCI Cancer …, 2020 - academic.oup.com
Background Lynch syndrome, the most common colorectal cancer (CRC) syndrome, is
caused by germline mismatch repair (MMR) genes. Precise estimates of age-specific risks …

Polymorphisms in mismatch repair genes are associated with risk and microsatellite instability of gastric cancer, and interact with life exposures

H Zhu, X Li, X Zhang, D Chen, D Li, J Ren, H Gu, Y Shu… - Gene, 2016 - Elsevier
Background Epigenetic alterations of DNA mismatch repair (MMR) genes are associated
with risk of gastric cancer (GC) by causing microsatellite instability (MSI). Less understood is …

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

M Dominguez-Valentin, JR Sampson, TT Seppälä… - Genetics in …, 2020 - nature.com
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch
repair variants: findings from the Prospective Lynch Syndrome Database | Genetics in …

Cancer Risks for the Relatives of Colorectal Cancer Cases with a Methylated MLH1 Promoter Region: Data from the Colorectal Cancer Family Registry

AJ Levine, AK Win, DD Buchanan, MA Jenkins… - Cancer Prevention …, 2012 - AACR
Methylation of the MLH1 gene promoter region is an underlying cause of colorectal cancer
(CRC) with high microsatellite instability (MSI-H) diagnosed in persons without a germ line …