Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.T367fs
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CHEK2

NM_007194.4:p.T367fs

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

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

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

Noronha MM et al.

Familial Cancer, 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

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

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

Borsani O et al.

American Journal of Hematology, 2025

Circulating Tumor DNA as a Biomarker for Precision Medicine in Prostate Cancer: A Systematic Review.

Chanhih N et al.

International Journal of Molecular Sciences, 2025

41303533 (PubMed )
Supplement: ijms-26-11049-s001.zip › Supp_M_Table_S7.pdf

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

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

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

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_1

Exceptional response to the ATR inhibitor, camonsertib, in a patient with ALT+ metastatic melanoma.

Ngoi NYL et al.

Npj Precision Oncology, 2025

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

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

Vietri MT et al.

International Journal of Molecular Sciences, 2025

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Tervasmäki A et al.

Breast Cancer Research and Treatment, 2025

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations.

Kim KB et al.

Jco Precision Oncology, 2025

Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.

Möhrmann L et al.

Esmo Open, 2025

40174508 (PubMed )
Supplement: mmc2.xlsx › Suppl._Data_5

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

Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized Therapeutics.

Madeddu C et al.

International Journal of Molecular Sciences, 2025

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.

Mitchell J et al.

Nature Communications, 2025

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

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

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

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S3

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Valkna A et al.

Human Reproduction Open, 2025

Germline pathogenic variants in prostate cancer.

Shakroo YM et al.

Pathology, Research and Practice, 2024

Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms.

George TJ et al.

Jco Precision Oncology, 2024

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

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

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.

Schreurs MAC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

Cancer, 2024

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.

Kamihara J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

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