Associated Papers
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Jóri B et al.
Oncotarget, 2015
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
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F et al.
Breast Cancer Research : Bcr, 2014
Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.
Mosor M et al.
Bmc Cancer, 2013
RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.
Mosor M et al.
Breast Cancer Research and Treatment, 2010
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
Heikkinen K et al.
Carcinogenesis, 2006
Evaluation of RAD50 in familial breast cancer predisposition.
Tommiska J et al.
International Journal of Cancer, 2006
Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
Heikkinen K et al.
Journal of Medical Genetics, 2003