Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R535H
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CHEK2

NM_007194.4:p.R535H

Associated Papers

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

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

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_

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.

Stacey SN et al.

Nature Genetics, 2023

37932435 (PubMed )
Supplement: 41588_2023_1555_MOESM1_ESM.pdf

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 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

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Zanti M et al.

Frontiers in Genetics, 2023

37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › variant_score

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › variant_score

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.

Ow GS et al.

Cell Cycle (georgetown, Tex.), 2014

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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."