Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q534*
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SMAD4

NM_005359.6:p.Q534*

Associated Papers

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_1

A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.

Fukuya H et al.

Clinical Journal of Gastroenterology, 2025

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

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

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.

Vautier S et al.

American Journal of Medical Genetics. Part A, 2024

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S6_German_patients_mutations

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

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

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

StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Sen M et al.

Cancer Medicine, 2017

28371134 (PubMed )
Supplement: CAM4-6-883-s002.xlsx › S16_SAvs48-gene_test

Clinical Validation of a Next-Generation Sequencing Genomic Oncology Panel via Cross-Platform Benchmarking against Established Amplicon Sequencing Assays.

Kadri S et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer.

Wang K et al.

Nature Genetics, 2014

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ et al.

Lancet (london, England), 2004

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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."