Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Q1146*
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MSH6

NM_000179.3:p.Q1146*

Associated Papers

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_

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Isidro RA et al.

Frontiers in Oncology, 2023

Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Fountzilas E et al.

Oncotarget, 2018

30479693 (PubMed )
Supplement: oncotarget-09-35623-s001.pdf

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.

Mahalingam M

The American Journal of Dermatopathology, 2017

MSH6 mutation in a family affected by Muir-Torre syndrome.

Kacerovska D et al.

The American Journal of Dermatopathology, 2012

[Muir-Torre syndrome--a phenotypic variant of Lynch syndrome].

Kacerovská D et al.

Ceskoslovenska Patologie, 2010

MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

Mangold E et al.

The British Journal of Dermatology, 2007

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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."