Associated Papers
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 2025
PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.
Shao L et al.
Cancer Cell International, 2025
Skin cancer risk in hereditary mixed cancer syndromes.
Nikkola V et al.
Hereditary Cancer in Clinical Practice, 2025
Within-family analysis of PRS313: insights into breast cancer risk prediction.
Lanjanian H et al.
Journal, Genetic Engineering & Biotechnology, 2025
Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.
Chen F et al.
European Urology, 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.
Lara Gutierrez A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.
Dwornik R et al.
Hereditary Cancer in Clinical Practice, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.
Bodnar S et al.
Seminars in Hematology, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.
Manna EDF et al.
Genes, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.
Wen W et al.
Genetics in Medicine Open, 2025
Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancer.
Panagiotou E et al.
The Lancet. Respiratory Medicine, 2024
Genomic and transcriptomic profiling of pre- and postneoadjuvant chemotherapy triple negative breast cancer tumors.
Nishimura T et al.
Cancer Science, 2024
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV et al.
Nature Genetics, 2024
Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.
Kurkilahti V et al.
Cancers, 2024
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.
Went M et al.
Nature Communications, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Cancer risks among first-degree relatives of women with a genetic predisposition to breast cancer.
Xiao Q et al.
Journal of the National Cancer Institute, 2024
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 2024
Single nucleotide variants in lung cancer.
Tian X et al.
Chinese Medical Journal Pulmonary and Critical Care Medicine, 2024
NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.
Verzè M et al.
The Journal of Liquid Biopsy, 2024
The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.
Grigore LG et al.
Current Issues in Molecular Biology, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Concordance between an FDA-approved companion diagnostic and an alternative assay kit for assessing homologous recombination deficiency in ovarian cancer.
Wehn AK et al.
Gynecologic Oncology, 2024
Clinical impact of panel gene sequencing on therapy of advanced cancers of the digestive system: a retrospective, single center study.
Dreikhausen L et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.
Zeng PYF et al.
Cell Reports, 2024
Germline variants in early and late-onset Brazilian prostate cancer patients.
Coelho KBCA et al.
Urologic Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 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
Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells.
Li H et al.
Nature Biomedical Engineering, 2024
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.
Tuncer SB et al.
Pathology, Research and Practice, 2024
Limited Independent Follow-Up with Germline Testing of Variants Detected in BRCA1 and BRCA2 by Tumor-Only Sequencing.
Nowlen CJ et al.
Journal of Immunotherapy and Precision Oncology, 2024
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.
Stubbins RJ et al.
Haematologica, 2024
Repression of LSD1 potentiates homologous recombination-proficient ovarian cancer to PARP inhibitors through down-regulation of BRCA1/2 and RAD51.
Tao L et al.
Nature Communications, 2023