Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R148_E149Splc
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CHEK2

NM_007194.4:p.R148_E149Splc

Associated Papers

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.

Stein CM et al.

Leukemia, 2026

41419602 (PubMed )
Supplement: 41375_2025_2823_MOESM2_ESM.xlsx › putative_variants

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS3

Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.

Park JE et al.

Breast Cancer (tokyo, Japan), 2026

CHEK2 Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.

Manav Yigit Z et al.

Cancer Investigation, 2025

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.

Oh E et al.

Clinical Genitourinary Cancer, 2025

Pediatric Spitzoid Melanoma: A Case Report.

Roganović J et al.

Acta Medica Academica, 2025

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.

Neumann C et al.

Jco Precision Oncology, 2025

41100774 (PubMed )
Supplement: po-9-e2400951-s001.pdf

Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.

Flores-Lagunes LL et al.

Familial Cancer, 2025

Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women.

Feszak S et al.

Hereditary Cancer in Clinical Practice, 2025

Association of gene variant type and location with breast cancer risk in the general population.

Akamandisa MP et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025

Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.

O'Reilly RL et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.

Goidescu IG et al.

International Journal of Molecular Sciences, 2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Genomic analysis of small renal masses reveals mutations linked with renal cell carcinoma and fast-growing tumors.

Vaicekauskaitė I et al.

Journal of Cancer Research and Clinical Oncology, 2025

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.

Bychkovsky BL et al.

Jama Network Open, 2025

39745704 (PubMed )
Supplement: jamanetwopen-e2451361-s001.pdf

Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.

Hachmeriyan M et al.

Oncology Reviews, 2025

CHEK2 variants, breast cancer, and implications for management: a narrative review.

Conde DM

Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2025

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Nagy P et al.

International Journal of Molecular Sciences, 2024

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O et al.

American Journal of Medical Genetics. Part A, 2024

Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.

De Sousa SMC et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population.

Akamandisa MP et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.

Davidson AL et al.

American Journal of Human Genetics, 2024

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Cushing's syndrome caused by giant Ewing's sarcoma of the kidney: A case report and review of literature.

Dong GF et al.

World Journal of Clinical Cases, 2024

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