Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D415fs
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SMAD4

NM_005359.6:p.D415fs

Associated Papers

Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral.

Makarova E et al.

Urologic Oncology, 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

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

Phenotypic characterisation of SMAD4 variant carriers.

Caillot C et al.

Journal of Medical Genetics, 2024

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.

Jelsig AM et al.

Endoscopy International Open, 2022

36531685 (PubMed )
Supplement: 2768supmat_10-1055-a-1954-0522.pdf

Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement.

Kim M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34290355 (PubMed )
Supplement: 41379_2021_872_MOESM1_ESM.pdf

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S1.2_Overall_SNV_small_indels

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.

Ricci MT et al.

Tumori, 2019

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1

Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report.

Bruceta M et al.

A&a Practice, 2018

Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.

Blatter RH et al.

Genes, Chromosomes & Cancer, 2015

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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."