Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.F1104delFs
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MSH6

NM_000179.3:p.F1104delFs

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 › A_Blood_as_normal

Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.

Schmalz D et al.

International Journal of Molecular Sciences, 2025

41373665 (PubMed )
Supplement: ijms-26-11512-s001.zip › Supplementary_Table_1_revised.xlsx › SNV_indels

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Case Report: A patient with lynch syndrome with vaginal endometriosis-associated malignancy and synchronous colonic tubulovillous adenoma.

Kuang T et al.

Frontiers in Medicine, 2025

Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma.

Feng X et al.

International Journal of Cancer, 2024

39109916 (PubMed )
Supplement: supplement_1.pdf

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

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

Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis.

Pussila M et al.

Ebiomedicine, 2024

38583260 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_1

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_10_

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.

Nassar A et al.

Genes, 2022

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.

Mikaeel RR et al.

Genes, Chromosomes & Cancer, 2022

Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.

Li N et al.

Frontiers in Immunology, 2022

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multiregional Tumor Sequencing.

Bonneville R et al.

Molecular Cancer Research : Mcr, 2021

MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas.

Chen W et al.

Human Pathology, 2020

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

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

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

Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Wing MR et al.

Oncotarget, 2017

29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients

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

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Talseth-Palmer BA et al.

Hereditary Cancer in Clinical Practice, 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."