Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.K301fs
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MSH6

NM_000179.3:p.K301fs

Associated Papers

Universal testing in endometrial cancer in Sweden.

Andersson E et al.

Hereditary Cancer in Clinical Practice, 2024

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

Olkinuora A et al.

Frontiers in Oncology, 2024

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

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

30578081 (PubMed )
Supplement: mmc1.pdf

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

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 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
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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."