Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P282S
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POLE

NM_006231.4:p.P282S

Associated Papers

Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.

Johansson PA et al.

The Journal of Investigative Dermatology, 2026

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

Functions, interactions and prognostic role of POLE: a bioinformatics analysis.

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

39575998 (PubMed )
Supplement: jgo-36-e45-s001.xls › jgo-36-e45-s001

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Subclonal p53 immunostaining in the diagnosis of endometrial carcinoma molecular subtype.

Huvila J et al.

Histopathology, 2023

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

Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report.

Kitazono I et al.

International Journal of Surgical Pathology, 2022

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Palles C et al.

Familial Cancer, 2022

33948826 (PubMed )
Supplement: 10689_2021_256_MOESM1_ESM.docx

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

31829442 (PubMed )
Supplement: PATH-250-323-s002.xlsx › Supplementary_Table_S1

Phenotype of POLE-mutated endometrial cancer.

Imboden S et al.

Plos One, 2019

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Buchanan DD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx

POLE mutations in families predisposed to cutaneous melanoma.

Aoude LG et al.

Familial Cancer, 2015

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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."