Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.A430T
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POLE

NM_006231.4:p.A430T

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 2024

Analysis of patients with endometrial carcinoma using the ProMise classifier: a pilot study from India.

Dahiya A et al.

Archives of Gynecology and Obstetrics, 2024

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P et al.

Genome Medicine, 2023

37848928 (PubMed )
Supplement: 13073_2023_1234_MOESM3_ESM.xlsx › Table_S3

Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.

Paracchini L et al.

Cancers, 2022

35954363 (PubMed )
Supplement: cancers-14-03697-s001.zip › cancers-1796307-supplementary › Supplementary › Supplementary_Table_S4.xlsx › Sheet1

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Hamzaoui N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Phase II study of panitumumab combined with capecitabine and oxaliplatin as first-line treatment in metastatic colorectal cancer patients: clinical results including extended tumor genotyping.

Papaxoinis G et al.

Medical Oncology (northwood, London, England), 2018

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF et al.

Orphanet Journal of Rare Diseases, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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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."