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
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.
Zurera M et al.
Clinical Lung Cancer, 2025
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.
Gangal SK et al.
American Journal of Medical Genetics. Part A, 2025
Contribution of MRE11, RAD50, and NBS1 Genotypes to Bladder Cancer Susceptibility.
Liao CH et al.
Cancer Genomics & Proteomics, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Germline pathogenic variants in prostate cancer.
Shakroo YM et al.
Pathology, Research and Practice, 2024
Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.
Apostolou P et al.
Cancers, 2024
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Anthracycline-related cardiotoxicity in patients with breast cancer harboring mutational signature of homologous recombination deficiency (HRD).
Incorvaia L et al.
Esmo Open, 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
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.
Ziogas DC et al.
Cancers, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Otahalova B et al.
International Journal of Molecular Sciences, 2023
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
Belhadj S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
Anaclerio F 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
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 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
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Zuntini R et al.
International Journal of Molecular Sciences, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
Carlo MI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
Fostira F et al.
Journal of Medical Genetics, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
Jian W et al.
Hereditary Cancer in Clinical Practice, 2017
Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of Refractory Seizures: Case Report.
Garavatti E et al.
Child Neurology Open, 0