Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D351N
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SMAD4

NM_005359.6:p.D351N

Associated Papers

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

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

Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Pons L et al.

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

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

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

Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention, and clinical impact.

Huebner H et al.

Precision Clinical Medicine, 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

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

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

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Terlouw D et al.

Genes, Chromosomes & Cancer, 2024

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

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST10

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

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Deciphering the impact of missense mutations on structure and dynamics of SMAD4 protein involved in pathogenesis of gall bladder cancer.

Kumar R et al.

Journal of Biomolecular Structure & Dynamics, 2021

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

ctDNA in Neuroendocrine Carcinoma of Gastroenteropancreatic Origin or of Unknown Primary: The CIRCAN-NEC Pilot Study.

Gerard L et al.

Neuroendocrinology, 2021

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

A method for treatment monitoring using circulating tumour DNA in cancer patients without targetable mutations.

Demuth C et al.

Oncotarget, 2018

Correlation between circulating mutant DNA and metabolic tumour burden in advanced non-small cell lung cancer patients.

Winther-Larsen A et al.

British Journal of Cancer, 2017

Structural and functional impact of cancer-related missense somatic mutations.

Shi Z et al.

Journal of Molecular Biology, 2011

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

Loss of SMAD4 function in small intestinal adenocarcinomas: comparison of genetic and immunohistochemical findings.

Bläker H et al.

Pathology, Research and Practice, 2004

Genetics of adenocarcinomas of the small intestine: frequent deletions at chromosome 18q and mutations of the SMAD4 gene.

Bläker H et al.

Oncogene, 2002

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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."