Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E538*
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SMAD4

NM_005359.6:p.E538*

Associated Papers

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

Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.

Zatzman M et al.

Biorxiv : the Preprint Server for Biology, 2025

40654861 (PubMed )
Supplement: media-1.xlsx › Table_S1_-_Cohort_Metadata

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

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

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

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

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

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

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

Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.

Jiang J et al.

Frontiers in Oncology, 2021

34733795 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Circulating Tumour DNA Sequencing Identifies a Genetic Resistance-Gap in Colorectal Cancers with Acquired Resistance to EGFR-Antibodies and Chemotherapy.

Knebel FH et al.

Cancers, 2020

33322618 (PubMed )
Supplement: cancers-12-03736-s001.pdf

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM1_ESM.pdf

Repotrectinib Exhibits Potent Antitumor Activity in Treatment-Naïve and Solvent-Front-Mutant ROS1-Rearranged Non-Small Cell Lung Cancer.

Yun MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf

A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation.

Lee J et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2016

High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Tan IB et al.

Genome Biology, 2015

25808843 (PubMed )
Supplement: 13059_2015_589_MOESM4_ESM.pdf

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4

Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.

Koyama M et al.

Mutation Research, 1999

Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients.

Erdem HB et al.

Mutation Research, 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."