Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.T1008I
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MSH6

NM_000179.3:p.T1008I

Associated Papers

Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Crisafulli G et al.

Cancer Discovery, 2022

35522273 (PubMed )
Supplement: cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf

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

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

Drost M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Mechanisms and therapeutic implications of hypermutation in gliomas.

Touat M et al.

Nature, 2020

32322066 (PubMed )
Supplement: NIHMS1572083-supplement-1572083_Sup_Tab_4.xlsx › Sheet1

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development.

Maresca L et al.

Frontiers in Genetics, 2018

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.

Castiglia D et al.

Genes, Chromosomes & Cancer, 2008

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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."