Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R361C
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SMAD4

NM_005359.6:p.R361C

Associated Papers

Identification of the Carcinogenic Process from Lobular Endocervical Glandular Hyperplasia to Gastric-Type Adenocarcinoma of the Uterine Cervix via Whole-Exome Sequencing.

Kuruma A et al.

Cancers, 2026

Identification and characterization of a TGF-β-independent SMAD4-NFATc1-STAT3 regulatory axis.

Ouyang W et al.

Journal of Molecular Cell Biology, 2026

Neo-Cysteine Molecular Glues for Targeting Mutated SMAD4 Protein.

Kumari P et al.

Angewandte Chemie (international Ed. in English), 2026

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.

Bagrodia A et al.

Clinical Journal of Gastroenterology, 2025

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Polyclonal origins of human premalignant colorectal lesions.

Van Egeren D et al.

Nature, 2025

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Despas L et al.

Journal of Medical Genetics, 2025

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 › Figure_3C

Polyclonal origins of human premalignant colorectal lesions.

Van Egeren D et al.

Biorxiv : the Preprint Server for Biology, 2025

Single-cell RNA profiling reveals an immunosuppressive microenvironment in EGFR double-mutant non-small cell lung cancer.

Yang J et al.

Translational Lung Cancer Research, 2025

41234595 (PubMed )
Supplement: tlcr-14-10-4235-supplementary.pdf

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S5_List_of_mutations_cancer_samples.xlsx › miRNA_biogenesis_genes

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.

Klocker EV et al.

Npj Breast Cancer, 2025

40775238 (PubMed )
Supplement: 41523_2025_805_MOESM1_ESM.pdf

Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.

Nedjadi T et al.

Scientific Reports, 2025

Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.

Ganesan A et al.

Scientific Reports, 2025

40595931 (PubMed )
Supplement: 41598_2025_4827_MOESM3_ESM.xlsx › Patient__10

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

Prostate Ductal Adenocarcinoma Revisited: Clinicopathological and Genomic Characterization Identifies Heterogenous Group of Diseases with Implications for Patient Management.

Cai Q et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

SMAD4 and KRAS Status Shapes Cancer Cell-Stromal Cross-Talk and Therapeutic Response in Pancreatic Cancer.

Lloyd EG et al.

Cancer Research, 2025

39841099 (PubMed )
Supplement: EMS202804-supplement-Table_1.xlsx › Table_S1

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Comprehensive immunophenotyping of gastric adenocarcinoma identifies an inflamed class of tumors amenable to immunotherapies.

Veas Rodriguez J et al.

Journal for Immunotherapy of Cancer, 2025

40102027 (PubMed )
Supplement: jitc-13-3-s003.xlsx › Table_S3

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Decoding the functional impact of the cancer genome through protein-protein interactions.

Fu H et al.

Nature Reviews. Cancer, 2025

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Gain-of-function variants in SMAD4 compromise respiratory epithelial function.

Lindsay ME et al.

The Journal of Allergy and Clinical Immunology, 2025

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

Comprehensive genomic profiling of primary bladder mucinous adenocarcinoma, a rare genitourinary cancer: A case report.

Yamamoto S et al.

Urology Case Reports, 2025

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

Genetic heterogeneity and key driver mutations in the preneoplastic and earliest stages of gastric cancer.

Marroquín-Estrada EA et al.

Gastroenterology Report, 2025

41079989 (PubMed )
Supplement: goaf089_supplementary_data.zip › Supplementary_Tables_.xlsx › Supp._Table_2

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures.

Park W et al.

International Journal of Molecular Sciences, 2024

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.

Fasano C et al.

Cells, 2024

Phenotypic characterisation of SMAD4 variant carriers.

Caillot C et al.

Journal of Medical Genetics, 2024

Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.

Franco PI et al.

Jco Global Oncology, 2024

A multiplexed time-resolved fluorescence resonance energy transfer ultrahigh-throughput screening assay for targeting the SMAD4-SMAD3-DNA complex.

Ouyang W et al.

Journal of Molecular Cell Biology, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Diagnostic Utility of Next-Generation Sequencing in Circulating Free DNA and a Comparison With Matched Tissue in Gallbladder Carcinoma.

Mishra S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene
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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."