Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D415fs
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SMAD4

NM_005359.6:p.D415fs

Associated Papers

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

Pearson M et al.

European Journal of Human Genetics : Ejhg, 2024

Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.

Mafficini A et al.

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

Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.

Wang XY et al.

Theranostics, 2022

34987644 (PubMed )
Supplement: thnov12p0260s1.pdf

Combination of KRAS and SMAD4 mutations in formalin-fixed paraffin-embedded tissues as a biomarker for pancreatic cancer.

Yokose T et al.

Cancer Science, 2020

32314446 (PubMed )
Supplement: CAS-111-2174-s001.xlsx › Supporting_Table_S1

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.

Aggarwal C et al.

Jama Oncology, 2019

PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients.

Hsu HC et al.

Cancers, 2018

30200630 (PubMed )
Supplement: cancers-10-00314-s001.zip › cancers-335170-sup › Supplementary_Table_S2.xlsx › Supplementary_Table_2

A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.

Pishvaian MJ et al.

Oncotarget, 2017

29137355 (PubMed )
Supplement: oncotarget-08-83446-s002.xlsx › Table_S2

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1.

Joneja U et al.

Journal of Clinical Pathology, 2017

27531819 (PubMed )
Supplement: jclinpath-2016-203874supp.pdf

Targeted next-generation sequencing of FNA-derived DNA in pancreatic cancer.

Sibinga Mulder BG et al.

Journal of Clinical Pathology, 2017

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

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.

Heald B et al.

American Journal of Medical Genetics. Part A, 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."