Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R523H
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CHEK2

NM_007194.4:p.R523H

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

39594831 (PubMed )
Supplement: cancers-16-03876-s001.zip › TableS2.xlsx › CHEK2_SuppTable2__1_

Next generation sequencing and genomic mapping: towards precision molecular diagnosis of lung cancer in Morocco.

Morjani O et al.

The Pan African Medical Journal, 2024

Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".

Kratz CP et al.

International Journal of Cancer, 2023

The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

Wagener R et al.

International Journal of Cancer, 2023

Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Tavano F et al.

Molecular Medicine (cambridge, Mass.), 2023

36717774 (PubMed )
Supplement: 10020_2023_600_MOESM1_ESM.xlsx › s1

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
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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."