Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S577L
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MLH1

NM_000249.4:p.S577L

Associated Papers

Germline BARD1 Mutation in High-Risk Chinese Breast and Ovarian Cancer Patients.

Kwong A et al.

Cancers, 2025

Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.

Wasson JL et al.

Familial Cancer, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_3.

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer.

Shao YJ et al.

Bmc Cancer, 2024

Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.

Cheng SM et al.

Journal of Biomedical Science, 2024

38350919 (PubMed )
Supplement: 12929_2024_1008_MOESM1_ESM.zip › 12929_2024_1008_MOESM1_ESM › Additional_file_1_Table_S2.xlsx › Table_S2

Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.

Sukpan P et al.

Journal of Personalized Medicine, 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 › MLH1

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.

Jiang TJ et al.

Cancer Communications (london, England), 2020

32914570 (PubMed )
Supplement: CAC2-40-620-s003.xlsx › Sheet1

Screening of germline mutations in young Rwandan patients with breast cancers.

Uyisenga JP et al.

Molecular Genetics & Genomic Medicine, 2020

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Chunn LM et al.

Frontiers in Genetics, 2020

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J et al.

Cancer Medicine, 2019

30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

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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."