Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.R446W
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POLE

NM_006231.4:p.R446W

Associated Papers

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

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Yu S et al.

Journal of Gynecologic Oncology, 2022

35320887 (PubMed )
Supplement: jgo-33-e38-s001.xls › jgo-33-e38-s001

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

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_2

Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Moreno E et al.

Diagnostic Pathology, 2020

32664968 (PubMed )
Supplement: 13000_2020_1001_MOESM1_ESM.docx

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

Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency.

Bourdais R et al.

Critical Reviews in Oncology/hematology, 2017

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

Spier I et al.

International Journal of Cancer, 2015

Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Billingsley CC et al.

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."