Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.P1087S
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MSH6

NM_000179.3:p.P1087S

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Continuous_TISF_monitoring

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

Al Delbany D et al.

Cells, 2024

39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.

Rasmussen M et al.

Frontiers in Oncology, 2023

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › Combined_minus_RNA

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Nikitin AG et al.

Frontiers in Oncology, 2020

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E et al.

Scientific Reports, 2019

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Jaballah-Gabteni A et al.

Journal of Translational Medicine, 2019

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H et al.

Journal of Biomedical Science, 2013

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

Pal T et al.

British Journal of Cancer, 2012

MUTYH and the mismatch repair system: partners in crime?

Niessen RC et al.

Human Genetics, 2006

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.

Domingo E et al.

Oncogene, 2005

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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."