Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R496H
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SMAD4

NM_005359.6:p.R496H

Associated Papers

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

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

Gowda S et al.

Jco Precision Oncology, 2025

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

Switching anti-EGFR antibody re-sensitizes head and neck cancer patient following acquired resistance to cetuximab.

Khattri A et al.

Cancer Gene Therapy, 2024

Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.

Hrudka J et al.

Scientific Reports, 2024

39333321 (PubMed )
Supplement: 41598_2024_72687_MOESM2_ESM.xlsx › 8

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

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

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Performance of Idylla™ RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer.

Makutani Y et al.

International Journal of Clinical Oncology, 2022

35474548 (PubMed )
Supplement: 10147_2022_2167_MOESM2_ESM.xlsx › Table_S3

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.

Lee SE et al.

International Journal of Molecular Sciences, 2021

34074070 (PubMed )
Supplement: ijms-22-05561-s001.zip › ijms-1205781-supplementary.xlsx › Table_S1

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Inagaki C et al.

Cancers, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.

Mokánszki A et al.

Diagnostics (basel, Switzerland), 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

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1

Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Liao Y et al.

Cancer Medicine, 2019

31369215 (PubMed )
Supplement: CAM4-8-5673-s008.xlsx › Supplementary_Table_S5

Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Chang YS et al.

Cancer Medicine, 2019

Biophysical simulations and structure-based modeling of residue interaction networks in the tumor suppressor proteins reveal functional role of cancer mutation hotspots in molecular communication.

Verkhivker GM

Biochimica Et Biophysica Acta. General Subjects, 2019

Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy.

Gleeson EM et al.

American Journal of Clinical Oncology, 2018

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture.

Xu MD et al.

Oncotarget, 2017

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › SMAD4.Illumina

Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing.

Kameta E et al.

Oncology Letters, 2016

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s7.pdf

Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Lanman RB et al.

Plos One, 2015

26474073 (PubMed )
Supplement: pone.0140712.s004.xlsx › GH_concordance_five_centers_edi

High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Ku BM et al.

Journal of Translational Medicine, 2014

Novel SMAD4 mutation causing Myhre syndrome.

Caputo V et al.

American Journal of Medical Genetics. Part A, 2014

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours.

Lazzereschi D et al.

Oncogene, 2005

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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."