Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.V759I
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POLD1

NM_002691.4:p.V759I

Associated Papers

The Molecular and Functional Landscape of Resistance to FOLFIRI Chemotherapy in Metastatic Colorectal Cancer.

Avolio M et al.

Cancer Discovery, 2026

40981426 (PubMed )
Supplement: cd-24-0556_supplementary_table_s2_suppst2.xlsx › HR_genes_effect

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancer.

Chen H et al.

Frontiers in Immunology, 2025

The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.

Zeng PYF et al.

Cell Reports, 2024

38412093 (PubMed )
Supplement: NIHMS1980905-supplement-9.xlsx › SuppTable4b.Germline_Data

Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.

Matis T et al.

Bjc Reports, 2024

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s002.xlsx › VUS_Reclassified

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Zhang L et al.

Molecular Oncology, 2022

35971249 (PubMed )
Supplement: MOL2-16-3689-s003.xlsx › Table_S2

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2

Germline Alterations in Patients With IBD-associated Colorectal Cancer.

Biscaglia G et al.

Inflammatory Bowel Diseases, 2022

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Chiang YC et al.

Biomedicines, 2021

34680501 (PubMed )
Supplement: biomedicines-09-01384-s001.zip › OV_NGS_Table_S1.pdf

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

Magrin L et al.

Oncogene, 2021

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Dámaso E et al.

Cancers, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.

Rosner G et al.

Diseases of the Colon and Rectum, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.

Han J et al.

Mechanisms of Ageing and Development, 2013

Hereditary intestinal polyposis syndromes.

Dean PA

Revista De Gastroenterologia De Mexico, 0

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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."