Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S252*
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MLH1

NM_000249.4:p.S252*

Associated Papers

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.

Takemon Y et al.

Genome Medicine, 2024

39578878 (PubMed )
Supplement: 13073_2024_1401_MOESM2_ESM.xlsx › D_-_WRN_inhibitor_-_DepMap_muts

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

Outcomes and the effect of PGT-M in women with hormone-related hereditary tumor syndrome.

Wang D et al.

Frontiers in Oncology, 2024

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.

Fountzilas E et al.

International Journal of Molecular Sciences, 2023

37511593 (PubMed )
Supplement: ijms-24-11834-s001.zip › Supplemental_Table_S3.xlsx › List_of_variants

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

Vos JR et al.

International Journal of Cancer, 2020

32510614 (PubMed )
Supplement: IJC-147-2150-s001.pdf

Validation Strategy for Ultrasensitive Mutation Detection.

Debeljak M et al.

Molecular Diagnosis & Therapy, 2018

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Workflow optimization of whole genome amplification and targeted panel sequencing for CTC mutation detection.

Liu HE et al.

Npj Genomic Medicine, 2017

The ratio of STAT1 to STAT3 expression is a determinant of colorectal cancer growth.

Nivarthi H et al.

Oncotarget, 2016

27191495 (PubMed )
Supplement: oncotarget-07-51096-s001.pdf

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E et al.

Cancer Medicine, 2015

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Target enrichment using parallel nanoliter quantitative PCR amplification.

De Wilde B et al.

Bmc Genomics, 2014

Cytosine-based nucleoside analogs are selectively lethal to DNA mismatch repair-deficient tumour cells by enhancing levels of intracellular oxidative stress.

Hewish M et al.

British Journal of Cancer, 2013

23361057 (PubMed )
Supplement: bjc20133x3.xls › supplemental_table_2

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

Pritchard CC et al.

The Journal of Molecular Diagnostics : Jmd, 2012

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

Devlin LA et al.

The Ulster Medical Journal, 2008

Persistent mismatch repair deficiency following targeted correction of hMLH1.

Weiss MB et al.

Cancer Gene Therapy, 2007

Mutational targets in colorectal cancer cells with microsatellite instability.

Bertholon J et al.

Familial Cancer, 2006

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Wang Q et al.

Human Genetics, 2003

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.

Noensie EN et al.

Nature Biotechnology, 2001

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

Shimodaira H et al.

Nature Genetics, 1998

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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."