Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R119H
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POLD1

NM_002691.4:p.R119H

Associated Papers

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.

Tsarin L et al.

Database : the Journal of Biological Databases and Curation, 2025

41263451 (PubMed )
Supplement: baaf076_supplemental_files.zip › Supplementary_Table_S2.xlsx › Table_S4

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.

Bappy MNI et al.

Genetics Research, 2022

POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Chen YX et al.

Clinical and Translational Medicine, 2021

34586735 (PubMed )
Supplement: CTM2-11-e524-s001.xlsx › Supplementary_Table_6

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Yang H et al.

Therapeutic Advances in Medical Oncology, 2020

Comprehensive analysis of POLE and POLD1 Gene Variations identifies cancer patients potentially benefit from immunotherapy in Chinese population.

Yao J et al.

Scientific Reports, 2019

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia D et al.

Scientific Reports, 2019

31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_8

Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy.

Limviphuvadh V et al.

Bmc Cancer, 2018

29751792 (PubMed )
Supplement: 12885_2018_4471_MOESM1_ESM.zip › TableS2R2.xlsx › Table_S2

The catalytic subunit of DNA polymerase δ inhibits γTuRC activity and regulates Golgi-derived microtubules.

Shen Y et al.

Nature Communications, 2017

Association of DNA repair gene polymorphisms with response to cisplatin-based concurrent chemoradiotherapy in patients with cervical carcinoma.

Liu JH et al.

Dna Repair, 2016

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Jupe ER et al.

Bba Clinical, 2014

26673457 (PubMed )
Supplement: mmc1.pdf

Combined genetic and nutritional risk models of triple negative breast cancer.

Lee E et al.

Nutrition and Cancer, 2014

Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer.

Smith TR et al.

Carcinogenesis, 2011

DNA replication fidelity and cancer.

Preston BD et al.

Seminars in Cancer Biology, 2010

Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

Smith TR et al.

Carcinogenesis, 2008

Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan.

Nakayama R et al.

Cancer Science, 2008

Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk.

Kohno T et al.

Carcinogenesis, 2006

Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

Weber F et al.

American Journal of Human Genetics, 2006

Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

Wu X et al.

American Journal of Human Genetics, 2006

Genetic variation and willingness to participate in epidemiologic research: data from three studies.

Bhatti P et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk.

Sakiyama T et al.

International Journal of Cancer, 2005

Nucleotide-excision repair and prostate cancer risk.

Lockett KL et al.

Cancer Letters, 2005

Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

Sigurdson AJ et al.

Bmc Cancer, 2004

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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."