Associated Papers
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 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
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
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
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
Megid TBC et al.
Frontiers in Oncology, 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
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Integrative clinical genomics of metastatic cancer.
Robinson DR et al.
Nature, 2017
Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
Lener MR et al.
International Journal of Cancer, 2016
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
Ramus SJ et al.
Journal of the National Cancer Institute, 2015
Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
Kim H et al.
Familial Cancer, 2015
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
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
Clinical characteristics of breast cancer in patients with an NBS1 mutation.
Huzarski T et al.
Breast Cancer Research and Treatment, 2013
An inherited NBN mutation is associated with poor prognosis prostate cancer.
Cybulski C et al.
British Journal of Cancer, 2013
Nijmegen breakage syndrome (NBS).
Chrzanowska KH et al.
Orphanet Journal of Rare Diseases, 2012
Clinical radiation sensitivity with DNA repair disorders: an overview.
Pollard JM et al.
International Journal of Radiation Oncology, Biology, Physics, 2009
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
Huang J et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008
The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.
Demuth I et al.
Oncogene, 2007
NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.
Buslov KG et al.
International Journal of Cancer, 2005
Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.
Soucek P et al.
European Journal of Human Genetics : Ejhg, 2003
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
Bakhshi S et al.
Journal of Pediatric Hematology/oncology, 2003
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.
Tauchi H et al.
Oncogene, 2002
Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.
Cerosaletti KM et al.
Mutagenesis, 2000
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.
Tauchi H
Journal of Radiation Research, 2000
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R et al.
Cell, 1998