Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q426*
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MLH1

NM_000249.4:p.Q426*

Associated Papers

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_2

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-4.xlsx › Supplementary_Table_2

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

Paget's Disease of the Bone and Lynch Syndrome: An Exceptional Finding.

Gheorghe AM et al.

Diagnostics (basel, Switzerland), 2023

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Liu J et al.

Frontiers in Oncology, 2022

The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Frostberg E et al.

Cancers, 2021

Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.

de Paula AE et al.

Cancer Genetics, 2021

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

de Angelis de Carvalho N et al.

Cancers, 2020

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Schneider NB et al.

Cancer Medicine, 2018

Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.

Zilberg C et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

Therkildsen C et al.

European Journal of Neurology, 2015

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Carneiro da Silva F et al.

Plos One, 2015

Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

Vierkoetter KR et al.

Gynecologic Oncology, 2014

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Petersen SM et al.

Bmc Medical Genetics, 2013

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD et al.

Familial Cancer, 2011

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

Bisgaard ML et al.

Human Mutation, 2002

HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.

Jäger AC et al.

Oncogene, 2001

[Registration of hereditary non-polyposis colorectal cancer].

Bernstein IT et al.

Ugeskrift for Laeger, 1999

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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."