Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R240Q
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MSH6

NM_000179.3:p.R240Q

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.

Soon Jian Hao J et al.

Cold Spring Harbor Molecular Case Studies, 2022

36577523 (PubMed )
Supplement: supp_mcs.a006223_Supplemental_Material.pdf

Cell-type-specific epigenomic variations associated with BRCA1 mutation in pre-cancer human breast tissues.

Hsieh YP et al.

Nar Genomics and Bioinformatics, 2022

35118379 (PubMed )
Supplement: lqac006_supplemental_files.zip › Supplementary_Figures_and_Tables_12-12_final.pdf

Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Vidal AF et al.

Bmc Cancer, 2021

33827469 (PubMed )
Supplement: 12885_2021_8089_MOESM2_ESM.xlsx › Plan1

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Genomic Signature of Driver Genes Identified by Target Next-Generation Sequencing in Chinese Non-Small Cell Lung Cancer.

Wen S et al.

The Oncologist, 2019

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Schneider NB et al.

Cancer Medicine, 2018

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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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."