Associated Papers
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
First Clinical Evidence of Repotrectinib Efficacy in ROS1-Rearranged NSCLC With a D2033N Resistance Mutation: Case Report.
Yoshida Y et al.
Clinical Lung Cancer, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 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
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Biswas S et al.
Journal of Genetics, 2024
An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
Tarapara B et al.
Journal of Biomolecular Structure & Dynamics, 2023
Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.
Bajek A et al.
Frontiers in Neurology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 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
Post-Translational Modification of MRE11: Its Implication in DDR and Diseases.
Lu R et al.
Genes, 2021
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
Elkholi IE et al.
Scientific Reports, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG et al.
Scientific Reports, 2020
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Belhadj S et al.
Human Mutation, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.
Sharma Bhai P et al.
Breast Care (basel, Switzerland), 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Maxwell KN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014