Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.W398*
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SMAD4

NM_005359.6:p.W398*

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Clinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing.

Dang Y et al.

Medical Molecular Morphology, 2023

Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions.

Rift CV et al.

Gastrointestinal Endoscopy, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

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

Three dimensional primary cultures for selecting human breast cancers that are sensitive to the anti-tumor activity of ipatasertib or taselisib in combination with anti-microtubule cytotoxic drugs.

Orditura M et al.

Breast (edinburgh, Scotland), 2018

Genomic testing for pancreatic cancer in clinical practice as real-world evidence.

Hayashi H et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

Martin-Morales L et al.

Plos One, 2018

Cytology smears as excellent starting material for next-generation sequencing-based molecular testing of patients with adenocarcinoma of the lung.

Velizheva NP et al.

Cancer Cytopathology, 2017

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium.

Tops BB et al.

Bmc Cancer, 2015

25637035 (PubMed )
Supplement: 12885_2015_1015_MOESM5_ESM.xlsx › Supplementary_Table_4

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4

Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.

Carr JC et al.

The Journal of Surgical Research, 2012

SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome.

Langeveld D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

van Hattem WA et al.

Gut, 2008

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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."