Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R311H
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POLD1

NM_002691.4:p.R311H

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

Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer.

Ambrosini M et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM3_ESM.xlsx › Sheet1

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

Potential genetic biomarker of Saudi Arabian patients with colorectal cancer.

Younis NS et al.

European Review for Medical and Pharmacological Sciences, 2022

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Magrin L et al.

Oncogene, 2021

Role of POLE and POLD1 in familial cancer.

Mur P et al.

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

32792570 (PubMed )
Supplement: 41436_2020_922_MOESM5_ESM.xlsx › Suppl._Table_8

POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

Siraj AK et al.

Molecular Genetics & Genomic Medicine, 2020

Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Xu Y et al.

Frontiers in Oncology, 2020

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.

Shinbrot E et al.

Genome Research, 2014

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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."