Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.I157T
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CHEK2

NM_007194.4:p.I157T

Associated Papers

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

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

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

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

41691430 (PubMed )
Supplement: UEG2-14-e70187-s001.xlsx › Sheet1

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Pal T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Mutational patterns and ancestry-linked profiles in a large hepatocellular carcinoma and combined hepatocellular-cholangiocarcinoma cohort.

Gerdes C et al.

Esmo Open, 2026

Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.

Tóth T et al.

World Journal of Gastroenterology, 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

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Familial colorectal cancer: search for novel predisposition genes.

Försti A et al.

Human Genomics, 2025

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

Fedorov K et al.

Current Hematologic Malignancy Reports, 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

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

40844318 (PubMed )
Supplement: IJC-157-2532-s001.pdf

Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.

Jinga DC et al.

International Journal of Molecular Sciences, 2025

41465396 (PubMed )
Supplement: ijms-26-11968-s001.zip › File_S1.xlsx › Sheet1

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

Myoepithelial and epithelial-myoepithelial clinically advanced and metastatic carcinomas of salivary gland: A comparative comprehensive genomic profiling study.

Hardy CSC et al.

Human Pathology, 2025

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

Oh E et al.

Clinical Genitourinary Cancer, 2025

Germline Mutations in DNA Repair Genes in Patients with Pancreatic Neuroendocrine Neoplasms: Diagnostic and Therapeutic Implications.

Jurecka-Lubieniecka B et al.

Current Oncology (toronto, Ont.), 2025

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 2025

Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral.

Makarova E et al.

Urologic Oncology, 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

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_S5

Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.

Eberhard A et al.

Iscience, 2025

41142998 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2

Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing.

Caliendo G et al.

Cancer Medicine, 2025

Comprehensive Genomic Profiling in Advanced Non-Small Cell Lung Cancer: A Real-World Cohort Study in Finland.

Hormalainen K et al.

Cancer Medicine, 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

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

Flores-Lagunes LL et al.

Familial Cancer, 2025

Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors.

Nandakumar S et al.

Acta Neuropathologica, 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

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?

Esposito Abate R et al.

Jco Precision Oncology, 2025

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Repo PE et al.

Pigment Cell & Melanoma Research, 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

Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients.

Crawford TB et al.

Medrxiv : the Preprint Server for Health Sciences, 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
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