Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G1216Splc
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MSH6

NM_000179.3:p.G1216Splc

Associated Papers

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.

Neumann C et al.

Jco Precision Oncology, 2025

41100774 (PubMed )
Supplement: po-9-e2400951-s001.pdf

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.

Ali-Fehmi R et al.

Jco Precision Oncology, 2024

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.

Bugoye FC et al.

Frontiers in Genetics, 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-2021-107886supp006.xlsx › MSH2

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › class5___class4

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

Dominguez-Valentin M et al.

Bmc Urology, 2016

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

Klarskov L et al.

The American Journal of Surgical Pathology, 2011

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

Jensen UB et al.

Breast Cancer Research and Treatment, 2010

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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."