Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R127Splc
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MLH1

NM_000249.4:p.R127Splc

Associated Papers

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_2

Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation.

Joo JE et al.

Familial Cancer, 2025

40208414 (PubMed )
Supplement: 10689_2025_456_MOESM1_ESM.pdf

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.

Ali-Fehmi R et al.

Jco Precision Oncology, 2024

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Pembrolizumab alters the tumor immune landscape in a patient with dMMR glioblastoma.

Bartkowiak T et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Li Y et al.

Cancer Biology & Medicine, 2022

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort.

Dong L et al.

International Journal of Cancer, 2020

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

Toon CW et al.

The American Journal of Surgical Pathology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."