Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.T367delFs
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CHEK2

NM_007194.4:p.T367delFs

Associated Papers

Olaparib for patients with tumors harboring alterations in homologous recombination repair genes: Results from the drug rediscovery protocol.

Spiekman IAC et al.

International Journal of Cancer, 2026

41099623 (PubMed )
Supplement: IJC-158-1617-s003.xlsx › Cohort_B

Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.

Johansson PA et al.

The Journal of Investigative Dermatology, 2026

Impact of Updated NCCN Guidelines on Clinical Management and Risk Communication for CHEK2 p.I157T Carriers in Breast Cancer.

Kell EA et al.

Research Square, 2026

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

Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study.

Schreurs MAC et al.

Journal of Medical Genetics, 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

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

Leveraging tumor multigene panel testing to identify germline variants in gynecologic cancers: A retrospective evaluation of an algorithm-based approach.

Parulekar M et al.

Gynecologic Oncology, 2026

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

Noronha MM et al.

Familial Cancer, 2026

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Meyer R et al.

Blood Cancer Journal, 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

Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.

Fedorov K et al.

Current Hematologic Malignancy Reports, 2025

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

Impact of germline CHEK2 pathogenic variants on the risk of Acute Myeloid Leukemia and Myelodysplastic syndrome.

Yang F et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2025

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

Manav Yigit Z et al.

Cancer Investigation, 2025

Imaging Surveillance and Risk-Based Management of Known Genetic Mutations in Breast Cancer: A Radiologist's Guide.

Daraghma M et al.

Journal of Breast Imaging, 2025

Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.

Zucker R et al.

Cancers, 2025

The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.

Moncado S et al.

Genes, 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

Skin cancer risk in hereditary mixed cancer syndromes.

Nikkola V et al.

Hereditary Cancer in Clinical Practice, 2025

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

Confirmation of BIK and SAMHD1 as Prostate Cancer Susceptibility Genes.

Pavlovich CP et al.

The Prostate, 2025

Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.

Vlaming M et al.

Bju International, 2025

CHEK2 Germline Variants in Early-Onset and Familial Myeloproliferative Neoplasms.

Borsani O et al.

American Journal of Hematology, 2025

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S4B_-_Germline_Variants

Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.

Chen F et al.

European Urology, 2025

Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.

Zurera M et al.

Clinical Lung Cancer, 2025

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

Surgical Choice among Women with a First Breast Cancer and Pathogenic Variants in Breast Cancer Genes.

Kerivan L et al.

Annals of Surgical Oncology, 2025

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

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

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

Flores-Lagunes LL et al.

Familial Cancer, 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

40922009 (PubMed )
Supplement: 13058_2025_2107_MOESM1_ESM.docx

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

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

Identification and Characterization of Rare Genetic Variants Associated with pathogenicity Breast Cancer Susceptibility Across Thousand Genome and GnomAD population.

Yadav K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia.

Takehara Y et al.

Jco Precision Oncology, 2025

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Repo PE et al.

Pigment Cell & Melanoma Research, 2025

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_2

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

Pócza T et al.

International Journal of Molecular Sciences, 2025

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

Roy S et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

40779059 (PubMed )
Supplement: 10689_2025_489_MOESM1_ESM.pdf

Rare variants and founder effect in the Beauce region of Quebec.

Gagnon M et al.

Communications Biology, 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

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM3_ESM.pdf
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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."