Associated Papers
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.
Zheng Y et al.
International Journal of Cancer, 2025
Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.
Kokemüller L et al.
International Journal of Cancer, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Somatic and germline mutations in endometrial cancer.
Botea R et al.
Journal of Medicine and Life, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Small-scale variants and large deletions in BRCA1/2 genes in Slovak high-grade serous ovarian cancer.
Janíková K et al.
Pathology, Research and Practice, 2023
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
Foglietta J et al.
Genes, 2020
Orthogonal Comparison of Four Plasma NGS Tests With Tumor Suggests Technical Factors are a Major Source of Assay Discordance.
Stetson D et al.
Jco Precision Oncology, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.
Ross JS et al.
Cancer, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Tumor genome analysis includes germline genome: are we ready for surprises?
Catenacci DV et al.
International Journal of Cancer, 2015