Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.D846V
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PDGFRA

NM_006206.6:p.D846V

Associated Papers

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.

Yan M et al.

The Oncologist, 2023

37311038 (PubMed )
Supplement: oyad168_suppl_supplementary_table_s1.docx

A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature.

Wang C et al.

International Journal of Surgical Pathology, 2023

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.

Toss A et al.

Current Oncology Reports, 2022

Prolonged response to sorafenib in a patient with refractory metastatic osteosarcoma and a somatic PDGFRA D846V mutation.

Armstrong AE et al.

Pediatric Blood & Cancer, 2019

Implementation of genomic medicine for gastrointestinal tumors.

Furukawa Y

Annals of Gastroenterological Surgery, 2018

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Manley PN et al.

Human Pathology, 2018

High-resolution melting analysis is a sensitive diagnostic tool to detect imatinib-resistant and imatinib-sensitive PDGFRA exon 18 mutations in gastrointestinal stromal tumors.

Künstlinger H et al.

Human Pathology, 2014

Gastrointestinal stromal tumors (GISTs): role of CD 117 and PDGFRA Golgi-like staining pattern in the recognition of mutational status.

Jaramillo S et al.

Revista Espanola De Enfermedades Digestivas, 2012

Progress in molecular diagnostics of gastrointestinal stromal tumors.

Daum O et al.

Expert Opinion on Medical Diagnostics, 2007

KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours.

Debiec-Rychter M et al.

European Journal of Cancer (oxford, England : 1990), 2006

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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."