Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R389W
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MLH1

NM_000249.4:p.R389W

Associated Papers

Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.

Francis RA et al.

Cancer Research Communications, 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 › MSH2

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST10-MMR

The Somatic Mutational Landscape of Mismatch Repair Deficient Prostate Cancer.

Fang B et al.

Journal of Clinical Medicine, 2023

36675550 (PubMed )
Supplement: jcm-12-00623-s001.zip › Supplementary_Tables.pdf

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

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 › MLH1

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.

Jia X et al.

Oncotargets and Therapy, 2021

The Quest for Improving Treatment of Cancer of Unknown Primary (CUP) Through Molecularly-Driven Treatments: A Systematic Review.

Lombardo R et al.

Frontiers in Oncology, 2020

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

Xavier A et al.

Molecular Genetics & Genomic Medicine, 2019

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

Utility of Genomic Analysis In Circulating Tumor DNA from Patients with Carcinoma of Unknown Primary.

Kato S et al.

Cancer Research, 2017

Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.

Skeldon SC et al.

European Urology, 2013

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

Andersen SD et al.

Human Mutation, 2012

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

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