Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.K854del1
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MSH6

NM_000179.3:p.K854del1

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Guan Y et al.

Scientific Reports, 2025

41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM2_ESM.xlsx › Sheet1

DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.

Schwendinger S et al.

Diagnostics (basel, Switzerland), 2025

40075779 (PubMed )
Supplement: diagnostics-15-00531-s001.zip › Supplementary_Data.xlsx › Mutations

Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.

Zheng Y et al.

International Journal of Cancer, 2025

Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.

Guerrini-Rousseau L et al.

Familial Cancer, 2024

Unexplained mismatch repair deficiency: Case closed.

Eikenboom EL et al.

Hgg Advances, 2023

36624813 (PubMed )
Supplement: mmc1.pdf

Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Yang RK et al.

Cancers, 2022

36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Nikitin AG et al.

Frontiers in Oncology, 2020

Bridging genomics and phenomics of gastric carcinoma.

Cho J et al.

International Journal of Cancer, 2019

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

Gray PN et al.

Oncotarget, 2018

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N et al.

Journal of Medical Genetics, 2015

Diversity of the clinical presentation of the MMR gene biallelic mutations.

Bougeard G et al.

Familial Cancer, 2014

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