Associated Papers
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
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
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
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.
Pócza T et al.
International Journal of Molecular Sciences, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 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
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population.
Sharaf B et al.
Frontiers in Oncology, 2025
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 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
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
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
van der Tuin K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Genetic Testing and Analysis in Breast Cancer Patients in Greece.
Rellias I et al.
Cureus, 2024
Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.
Abdel-Razeq H et al.
World Journal of Oncology, 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
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.
Freire MV et al.
Journal of Personalized Medicine, 2024
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V et al.
Genes, 2024
Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.
Schwartz CJ et al.
Breast Cancer Research and Treatment, 2024
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
Infante M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Di Rado S et al.
Cancers, 2023
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".
Kratz CP et al.
International Journal of Cancer, 2023
The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
Wagener R et al.
International Journal of Cancer, 2023
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I et al.
European Journal of Human Genetics : Ejhg, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
Anaclerio F et al.
Frontiers in Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
Graffeo R et al.
Breast (edinburgh, Scotland), 2022
A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.
Zhang SS et al.
Jto Clinical and Research Reports, 2022
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022