Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.F1088fs
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MSH6

NM_000179.3:p.F1088fs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

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

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_17

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1

Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.

Mizukami K et al.

Communications Medicine, 2025

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.

van Opijnen MP et al.

Npj Genomic Medicine, 2025

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

A Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial.

Zane LK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

HR eye & MMR eye: one-day assessment of DNA repair-defective tumors eligible for targeted therapy.

Saito S et al.

Nature Communications, 2025

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Kerr SM et al.

American Journal of Human Genetics, 2025

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.

Oliver TRW et al.

Nature Genetics, 2025

Comprehensive molecular analysis of 26 newly established human pancreatic ductal adenocarcinoma cell lines reveals two clusters with variating drug sensitivities.

Maeng JE et al.

Cancer Cell International, 2025

39972450 (PubMed )
Supplement: 12935_2025_3671_MOESM10_ESM.xlsx › Table_S2A.

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

Early-stage endometrioid carcinoma with MSH6 protein deficiency: pitfalls in the diagnostic interpretation of microsatellite instability.

Wang C et al.

Frontiers in Oncology, 2025

Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas.

Greenman M et al.

Gynecologic Oncology Reports, 2024

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

Single-Hit and Multi-hit PIK3CA Short Variant Genomic Alterations in Clinically Advanced Prostate Cancer: A Genomic Landscape Study.

Basin MF et al.

Targeted Oncology, 2024

Identification of molecular subtypes for endometrial carcinoma using a 46-gene next-generation sequencing panel: a retrospective study on a consecutive cohort.

Guo Q et al.

Esmo Open, 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

Pan-tumor validation of a NGS fraction-based MSI analysis as a predictor of response to Pembrolizumab.

Lin DI et al.

Npj Precision Oncology, 2024

39277692 (PubMed )
Supplement: 41698_2024_679_MOESM1_ESM.pdf

Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer.

Kayhanian H et al.

Nature Genetics, 2024

Exploring ALK fusion in colorectal cancer: a case series and comprehensive analysis.

Li ZJ et al.

Npj Precision Oncology, 2024

Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.

Vasseur D et al.

Npj Precision Oncology, 2024

38409229 (PubMed )
Supplement: 41698_2024_544_MOESM2_ESM.pdf

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Adult glioblastoma with Lynch syndrome-associated mismatch repair deficiency forms a distinct high-risk molecular subgroup.

Georgescu MM

Free Neuropathology, 2024

Precision needle-punch tumor enrichment from paraffin blocks improves the detection of clinically actionable genomic alterations and biomarkers.

Lin DI et al.

Frontiers in Oncology, 2024

Progression of fertility-sparing treatment for atypical endometrial hyperplasia in a woman with lynch syndrome: a case report and review of the literature.

Hsu YT et al.

Frontiers in Oncology, 2024

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.

Li C et al.

Journal of Gastroenterology and Hepatology, 2023

Genomic profile of Chinese patients with endometrial carcinoma.

Li J et al.

Bmc Cancer, 2023

Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma.

Noll A et al.

Neoplasia (new York, N.y.), 2023

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Roht L et al.

Cancers, 2023

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

Elze L et al.

Journal of the National Cancer Institute, 2023

37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1

Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.

Zhang J et al.

Journal of Cancer Research and Clinical Oncology, 2023

Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors.

Shinojima N et al.

Brain Tumor Pathology, 2023

Automated Dashboards for the Identification of Pathogenic Circulating Tumor DNA Mutations in Longitudinal Blood Draws of Cancer Patients.

Udalov A et al.

Methods and Protocols, 2023

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 validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Genomic profiles of renal cell carcinoma in a small Chinese cohort.

Tai S et al.

Frontiers in Oncology, 2023

37427096 (PubMed )
Supplement: Table_1.xls › Sheet1
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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."