Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.T476M
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CHEK2

NM_007194.4:p.T476M

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

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

Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.

Noronha MM et al.

Familial Cancer, 2026

Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.

Rodriguez-Hernandez A et al.

Journal of the National Cancer Institute, 2026

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

Park JE et al.

Breast Cancer (tokyo, Japan), 2026

Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.

Akay S et al.

Genes, 2025

41595443 (PubMed )
Supplement: genes-17-00023-s001.zip › genes-4057373-supplementary.pdf

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

Manav Yigit Z et al.

Cancer Investigation, 2025

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

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

Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.

Jacobs MF et al.

Jco Precision Oncology, 2025

Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.

Walpole S et al.

Clinical Genetics, 2025

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.

Orsmond A et al.

Journal of Neuro-oncology, 2025

Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.

Kvist A et al.

Breast Cancer Research : Bcr, 2025

Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.

Pócza T et al.

International Journal of Molecular Sciences, 2025

Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program.

Brabender D et al.

Annals of Surgical Oncology, 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

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

Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.

Cabral PL et al.

Jco Precision Oncology, 2025

40768677 (PubMed )
Supplement: DS_PO-24-00760.pdf

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.

Sanabria-Salas MC et al.

European Journal of Human Genetics : Ejhg, 2025

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

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Munch AK et al.

Cancers, 2025

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

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

Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.

Terai M et al.

Journal of Clinical Medicine, 2025

[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].

Nagy P et al.

Magyar Onkologia, 2025

CHEK2-related breast cancer: real-world challenges.

Weis LN et al.

Familial Cancer, 2025

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

Sanabria-Salas MC et al.

Bmc Cancer, 2025

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

Bychkovsky BL et al.

Jama Network Open, 2025

Germinal pathogenic CHEK2, novel APC and somatic JAK2V617F variants in a young patient with colorectal cancer, atypical leukemia, cerebral tumour and aggressive course.

Rojas LXR et al.

Ecancermedicalscience, 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

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.

Gu H et al.

Genetics in Medicine Open, 2025

41542347 (PubMed )
Supplement: mmc2.xlsx › P_Var_supplementary

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

39684258 (PubMed )
Supplement: ijms-25-12546-s001.zip › Suppl._Methods__Tables.pdf

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

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Rawashdeh RR et al.

Jco Global Oncology, 2024

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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."