Associated Papers
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
Chen D et al.
Frontiers in Oncology, 2022
New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.
Dragoš VŠ et al.
Biology, 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
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
A pan-cancer analysis of synonymous mutations.
Sharma Y et al.
Nature Communications, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N et al.
Scientific Reports, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 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
Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.
Mosor M et al.
Bmc Cancer, 2013
Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck.
Ziółkowska-Suchanek I et al.
Head & Neck, 2012
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
Ciara E et al.
Acta Neuropathologica, 2010
Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
Desjardins S et al.
Bmc Cancer, 2009
Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.
Ziólkowska I et al.
Cancer Science, 2007
Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia.
Mosor M et al.
Leukemia, 2006
Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.
Cerosaletti KM et al.
Genes, Chromosomes & Cancer, 2002
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R et al.
Cell, 1998