Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.A586insFs
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MLH1

NM_000249.4:p.A586insFs

Associated Papers

Pathogenic germline variants in mismatch repair genes in patients with microsatellite instability-high gastric cancer.

Yun JH et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 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

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Kim Y et al.

Human Genetics, 2023

37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1

Small intestinal adenocarcinoma accompanied by lynch syndrome: A case report.

Yoon KW et al.

Medicine, 2023

Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.

Kim MH et al.

Cancer Research and Treatment, 2023

Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Kim YN et al.

Cancers, 2022

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

Jung YJ et al.

Hereditary Cancer in Clinical Practice, 2021

Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.

Lee ES et al.

Advances in Experimental Medicine and Biology, 2021

Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Ryu JS et al.

Cancer Science, 2020

Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.

Li F et al.

Molecular Genetics & Genomic Medicine, 2020

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Shin HC et al.

Cancer Research and Treatment, 2020

Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.

Lee HJ et al.

The Journal of Obstetrics and Gynaecology Research, 2018

Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans.

Lee SY et al.

Cancer Research and Treatment, 2016

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.

Li D et al.

Plos One, 2013

Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer.

Lim MC et al.

Japanese Journal of Clinical Oncology, 2010

Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.

Wei W et al.

Journal of Bioinformatics and Computational Biology, 2010

Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.

Pino MS et al.

The Journal of Molecular Diagnostics : Jmd, 2009

Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.

Yap HL et al.

Familial Cancer, 2009

Hereditary nonpolyposis colorectal cancer in endometrial cancer patients.

Yoon SN et al.

International Journal of Cancer, 2008

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

Shin YK et al.

Human Mutation, 2004

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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."