Associated Papers
Prevalence and impact of germline mutations in pancreatic ductal adenocarcinoma.
Kahraman EG et al.
Tumori, 2026
A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription.
Minello A et al.
Nature Communications, 2025
Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.
Buckley KH et al.
Biorxiv : the Preprint Server for Biology, 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
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.
Feszak S et al.
Cancers, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O et al.
Haematologica, 2025
BRCA2 germline mutation carrier with five malignancies: a case report.
Su E et al.
Hereditary Cancer in Clinical Practice, 2024
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 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
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
van der Tuin K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Luo M et al.
Journal of the National Cancer Institute, 2024
Next-Generation Sequencing Testing Can Save Generations of Lives.
Taha M et al.
Jco Precision Oncology, 2024
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
Kastellan S et al.
Journal of Hematology & Oncology, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E et al.
Communications Biology, 2024
Convergent evolution of BRCA2 reversion mutations under therapeutic pressure by PARP inhibition and platinum chemotherapy.
Walmsley CS et al.
Npj Precision Oncology, 2024
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Mohsin N et al.
Jama Dermatology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Conditional Dependency of LP-184 on Prostaglandin Reductase 1 is Synthetic Lethal in Pancreatic Cancers with DNA Damage Repair Deficiencies.
Restifo D et al.
Molecular Cancer Therapeutics, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M et al.
Clinical Genetics, 2023
Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients.
Yoon JY et al.
Translational Lung Cancer Research, 2023
Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.
Breen KE et al.
The Journal of Urology, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
Truong H et al.
European Urology, 2023
Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
Murciano-Goroff YR et al.
Nature Communications, 2022
Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
Botrus G et al.
Biomedicines, 2022
Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer?
Wang Y et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021