Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.K383fs
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MSH3

NM_002439.5:p.K383fs

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

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

Successful Identification and Treatment of Cancer of Unknown Primary Originating From Gastric Cancer Using Comprehensive Genomic Profiling and Immune Checkpoint Inhibitor Therapy: A Case Report.

Sasaki T et al.

Cancer Reports (hoboken, N.j.), 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Pembrolizumab Monotherapy for Early-Stage Triple-Negative Breast Cancer in a Patient With Lynch Syndrome.

Gowda S et al.

Jco Precision Oncology, 2025

Comprehensive genomic dependency landscape of a human colon cancer organoid.

Khalili S et al.

Communications Biology, 2025

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

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

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.

Nishiyama A et al.

Cancer Science, 2025

Case Report: Medullary carcinoma of the pancreas with MLH1 promoter hypermethylation, induced deficient mismatch repair, successfully treated with an immune checkpoint inhibitor.

Ohtsubo K et al.

Frontiers in Oncology, 2025

Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.

Takemon Y et al.

Genome Medicine, 2024

39578878 (PubMed )
Supplement: 13073_2024_1401_MOESM2_ESM.xlsx › B_-_WRN_KO_-_DepMap_muts.

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

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

Kayhanian H et al.

Nature Genetics, 2024

Microsatellite instability in mismatch repair proficient colorectal cancer: clinical features and underlying molecular mechanisms.

Xu Y et al.

Ebiomedicine, 2024

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_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

Molecular characterization of adenocarcinomas arising in the urinary bladder following augmentation cystoplasty: a multi-institutional study.

Stohr BA et al.

Human Pathology, 2022

36108931 (PubMed )
Supplement: NIHMS1916736-supplement-Appendix_A__Supplementary_data.xlsx › Sheet1

A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.

Kethireddy N et al.

Journal of Clinical Medicine, 2022

Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation Burden.

Ashish S et al.

Cureus, 2022

Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.

Fusco MJ et al.

The Oncologist, 2022

35305098 (PubMed )
Supplement: oyab014_suppl_supplementary_appendix_1.xlsx › CUP_Dx_-_Supplemental

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

Combined DNA repair defects in testicular metastasis from prostate cancer sensitize to immune checkpoint blockade.

Vlachostergios PJ

Current Urology, 2021

Clinicopathologic and Genomic Landscape of Breast Carcinoma Brain Metastases.

Huang RSP et al.

The Oncologist, 2021

Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Massoth LR et al.

The Oncologist, 2021

33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Golubicki M et al.

Cancers, 2021

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Soares de Lima Y et al.

Cancers, 2021

33672345 (PubMed )
Supplement: cancers-13-00929-s001.zip › Soares_de_Lima_et_al_Supplementary_material.pdf

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Somatic_false_negative

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Analysis of somatic microsatellite indels identifies driver events in human tumors.

Maruvka YE et al.

Nature Biotechnology, 2017

The Landscape of Somatic Genetic Alterations in Metaplastic Breast Carcinomas.

Ng CKY et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Workflow optimization of whole genome amplification and targeted panel sequencing for CTC mutation detection.

Liu HE et al.

Npj Genomic Medicine, 2017

Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma.

Taira Y et al.

Case Reports in Oncology, 0

Treatment Response Monitoring Using a Tumor-Informed Circulating Tumor DNA Test in an Advanced Triple-Negative Breast Cancer Patient: A Case Report.

Azzi G et al.

Case Reports in Oncology, 0

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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."