Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R300insFs
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MSH6

NM_000179.3:p.R300insFs

Associated Papers

Universal testing in endometrial cancer in Sweden.

Andersson E et al.

Hereditary Cancer in Clinical Practice, 2024

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

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

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Mäki-Nevala S et al.

Ebiomedicine, 2019

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Porkka N et al.

Oncotarget, 2017

29296220 (PubMed )
Supplement: oncotarget-08-108020-s002.xlsx › Som._mut._as_second_hit

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas.

Valo S et al.

Clinical Epigenetics, 2015

26203307 (PubMed )
Supplement: 13148_2015_102_MOESM10_ESM.pdf

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Sjursen W et al.

Journal of Medical Genetics, 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."