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
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.
Meyer R et al.
Blood Cancer Journal, 2026
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
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
Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board.
Krieghoff-Henning E et al.
Esmo Open, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 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
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.
Martínez Anaya D et al.
Biomedicines, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.
Wegert J et al.
Genome Medicine, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Richters L et al.
Jama Network Open, 2025
Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.
Rosenberger LH et al.
Breast Cancer Research and Treatment, 2025
Genetic evaluation of patients with multiple primary cancers.
Freire MV et al.
Oncology Letters, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia.
Mesarič VA et al.
Human Genomics, 2024
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
PEComa With MITF Overexpression: Clinicopathologic and Molecular Analysis of a Series of 36 Cases.
Hanna J et al.
The American Journal of Surgical Pathology, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation.
Kartal-Kaess M et al.
Pediatric Hematology and Oncology, 2024
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB et al.
Molecular Genetics & Genomic Medicine, 2024
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.
Sierra-Díaz DC et al.
Human Genomics, 2024
Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.
Franco PI et al.
Jco Global Oncology, 2024
Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
Raygada M et al.
Journal of Cancer Research and Clinical Oncology, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
Germline CHEK2 mutations in patients with myeloid neoplasms.
Freiman L et al.
Leukemia, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Immunohistochemical findings and clinicopathological features of breast cancers with pathogenic germline mutations in Non-BRCA genes.
Singh K et al.
Human Pathology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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