Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.P794S
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PMS2

NM_000535.7:p.P794S

Associated Papers

Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.

Kokemüller L et al.

International Journal of Cancer, 2025

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

Sjursen W et al.

Hereditary Cancer in Clinical Practice, 2024

39334433 (PubMed )
Supplement: 13053_2024_292_MOESM1_ESM.pdf

MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.

Carnevali IW et al.

Genes, 2023

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Tibiletti MG et al.

Biomedicines, 2022

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.

Georgescu MM et al.

Oncotarget, 2019

31258848 (PubMed )
Supplement: oncotarget-10-4038-s001.pdf

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.

Liccardo R et al.

Cancer Management and Research, 2019

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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."