Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.W142*
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MSH6

NM_000179.3:p.W142*

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

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

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.MSH6

Decoding the histone code: Role of H3K36me3 in mismatch repair and implications for cancer susceptibility and therapy.

Li GM

Cancer Research, 2013

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

Plaschke J et al.

Human Mutation, 2004

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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."