Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.R151fs
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PMS2

NM_000535.7:p.R151fs

Associated Papers

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Hechtman JF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

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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."