Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.
Wang P et al.
Genome Biology, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis.
Lintas C et al.
Lung Cancer (amsterdam, Netherlands), 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
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
cfDNA Chimerism and Somatic Mutation Testing in Early Prediction of Relapse After Allogeneic Stem Cell Transplantation for Myeloid Malignancies.
Rowley SD et al.
Cancers, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 2025
Association of Germline Pathogenic Variants in MUTYH and Other DNA Damage Response Genes With Lung Cancer Risk Among Non-Hispanic Whites and African Americans.
Trendowski MR et al.
Jco Precision Oncology, 2025
Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?
Rojas LXR et al.
Ecancermedicalscience, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.
Pasquinelli E et al.
Computational and Structural Biotechnology Journal, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Mesothelioma in situ of the peritoneum: report of three cases and review of the literature.
Symes E et al.
Histopathology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
ERCC3 Gene Associated with Breast Cancer: A Genetic and Bioinformatic Study.
Chen X et al.
The Breast Journal, 2024
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma.
Prosz A et al.
Scientific Reports, 2023
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Germline drivers of gynecologic carcinosarcomas.
Sia TY et al.
Gynecologic Oncology, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma.
Prosz A et al.
Biorxiv : the Preprint Server for Biology, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 2023
Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
Pietzak EJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
Foss-Skiftesvik J et al.
Acta Neuropathologica Communications, 2022
Re: ERCC3, a new ovarian cancer susceptibility gene?
Soukupova J et al.
European Journal of Cancer (oxford, England : 1990), 2021
Targeting Germline- and Tumor-Associated Nucleotide Excision Repair Defects in Cancer.
Topka S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021