Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L404delFs
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MLH1

NM_000249.4:p.L404delFs

Associated Papers

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.

Horti-Oravecz K et al.

Npj Genomic Medicine, 2025

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

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › MLH1

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Erratum: Dudley B, Karloski E, Monzon FA, et al. Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. Cancer. 2018;124:1691-1700.

Unknown Author

Cancer, 2018

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H et al.

Jama Oncology, 2018

Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.

Dudley B et al.

Cancer, 2018

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M et al.

Clinical Chemistry, 2008

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.

Zavodna K et al.

Neoplasma, 2006

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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."