Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R361H
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SMAD4

NM_005359.6:p.R361H

Associated Papers

Outside canonical BRAF p.V600E Box: 7 novel BRAF gene fusions in BRAF p.V600E WT papillary thyroid carcinoma.

McGrath N et al.

Virchows Archiv : an International Journal of Pathology, 2026

Convergence for Inactivation of TGF-β Signaling Is a Common Feature of Advanced Pancreatic Cancer.

Hong J et al.

Cancer Discovery, 2026

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

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

Ouyang W et al.

Journal of Molecular Cell Biology, 2026

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

Case Report: Mixed ductal-lobular carcinoma consisting of invasive lobular carcinoma with a glycogen-rich clear cell pattern and elevated tumor mutation burden.

Kawachi K et al.

Frontiers in Oncology, 2026

41669107 (PubMed )
Supplement: Table1.xlsx › Suppl._Table_S2

Widespread Epistasis between Cancer Driver Mutations and Allele-Specific Copy Number Variations.

Merzliakov S et al.

Biorxiv : the Preprint Server for Biology, 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

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

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

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

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

Development and Application of MiMouse, a Comprehensive Genomic Profiling Panel for Credentialing Mouse Tumor Models.

Hu K et al.

Cancer Research Communications, 2025

41051921 (PubMed )
Supplement: crc-25-0279_figure_s1_suppsf1.pdf

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Lazertinib for Patients with NSCLC Harboring Uncommon EGFR Mutations: A Phase II Multicenter Trial.

Park S et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025

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

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

NSABP FC-11: A phase II study of neratinib plus trastuzumab or neratinib plus cetuximab in patients with "quadruple wild-type" (KRAS/NRAS/BRAF/PIK3CA) metastatic colorectal cancer based on HER2 status: amplified, non-amplified (wild-type), or mutated.

Freeman TJ et al.

Cancer Chemotherapy and Pharmacology, 2025

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__7

Genomic and transcriptomic signatures of sequential carcinogenesis from papillary neoplasm to biliary tract cancer.

Chung T et al.

Journal of Hepatology, 2025

Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.

Fukushima T et al.

Clinical Lung Cancer, 2025

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_2_and_Figure_S1.xlsx › Table_S3

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

Paired mutation calling and spatial transcriptomics identify cellular neighbourhoods dictating the neoplastic outcome of colitis.

Moutin EB et al.

Research Square, 2025

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

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

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

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

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

Fu H et al.

Nature Reviews. Cancer, 2025

MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.

Kaczorowski M et al.

The Journal of Pathology. Clinical Research, 2025

40105034 (PubMed )
Supplement: CJP2-11-e70025-s003.xlsx › Table_S2

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

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

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.

Sarno F et al.

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

39540844 (PubMed )
Supplement: ccr-23-4026_supplementary_table_s3_suppts3.xlsx › Table

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

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

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

IDENTIFICATION OF CLINICALLY RELEVANT GENE VARIANTS IN COLON ADENOCARCINOMA SAMPLES OF UKRAINIAN PATIENTS USING A COMPREHENSIVE CANCER PANEL: A PILOT STUDY.

Gerashchenko G et al.

Experimental Oncology, 2024

Plasma mutation profile of precursor lesions and colorectal cancer using the Oncomine Colon cfDNA Assay.

Dos Reis MB et al.

Bmc Cancer, 2024

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

Genomic landscape of gallbladder cancer: insights from whole exome sequencing.

Awasthi S et al.

International Journal of Surgery (london, England), 2024

Tumor organoids improve mutation detection of pancreatic ductal adenocarcinoma.

Farshadi EA et al.

Scientific Reports, 2024

39462012 (PubMed )
Supplement: 41598_2024_75888_MOESM2_ESM.xlsx › Figure2

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations
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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."