Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S698delFs
Back to variants list

MLH1

NM_000249.4:p.S698delFs

Associated Papers

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

Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors.

Shinojima N et al.

Brain Tumor Pathology, 2023

A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.

Padua-Bracho A et al.

International Journal of Molecular Sciences, 2022

New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.

Sahin I et al.

Genetic Testing and Molecular Biomarkers, 2022

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Álvarez K et al.

Journal of Clinical Medicine, 2020

Endometrioid endometrial cancer "recurring" as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Jiang W et al.

Hereditary Cancer in Clinical Practice, 2019

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.

Spaepen M et al.

Familial Cancer, 2006

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."