Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R515*
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SMAD4

NM_005359.6:p.R515*

Associated Papers

Genomic mutation and Clinicopathological features of KRAS wild-type tumors in Chinese cohort with pancreatic adenocarcinoma.

Ye L et al.

Genomics, 2025

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

Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.

Kelly AD et al.

Journal for Immunotherapy of Cancer, 2021

34815356 (PubMed )
Supplement: jitc-2021-003550supp001.pdf

Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.

Affolter KE et al.

Neoplasia (new York, N.y.), 2021

34298235 (PubMed )
Supplement: mmc1.docx

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Madsen MB et al.

Frontiers in Endocrinology, 2020

32265839 (PubMed )
Supplement: Table_1.pdf

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability.

Maurice D et al.

The Journal of Biological Chemistry, 2001

Mutations of the DPC4/Smad4 gene in neuroendocrine pancreatic tumors.

Bartsch D et al.

Oncogene, 1999

Mutations of the DPC4/Smad4 gene in biliary tract carcinoma.

Hahn SA et al.

Cancer Research, 1998

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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."