Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.M1L
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POLE

NM_006231.4:p.M1L

Associated Papers

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Brand F et al.

Acta Neuropathologica, 2026

Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.

Mondschein R et al.

Cancers, 2022

35892882 (PubMed )
Supplement: cancers-14-03623-s001.zip › cancers-1805198-supplementary.pdf

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_1

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_MOESM6_ESM.xlsx › Suppl._Table_10

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_6

Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Fujimoto A et al.

Genome Research, 2020

32209592 (PubMed )
Supplement: supp_gr.255026.119_Supplemental_Tables.xlsx › Table_S11

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV et al.

American Journal of Human Genetics, 2018

Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Karnezis AN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

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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."