Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
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
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
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Lin I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Biochemical Properties of Naturally Occurring Human Bloom Helicase Variants.
Cueny RR et al.
Biorxiv : the Preprint Server for Biology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Biochemical properties of naturally occurring human bloom helicase variants.
Cueny RR et al.
Plos One, 2023
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
RecQ Helicase Somatic Alterations in Cancer.
Thakkar MK et al.
Frontiers in Molecular Biosciences, 2022
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
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
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Shastri VM et al.
Molecular Genetics & Genomic Medicine, 2016
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.
Nicolas E et al.
Oncotarget, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.
Swan MK et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
Mirzaei H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.
Sokolenko AP et al.
International Journal of Cancer, 2012
Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM.
Frank B et al.
Carcinogenesis, 2010
Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.
Broberg K et al.
Bmc Cancer, 2009
Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.
Matakidou A et al.
Human Molecular Genetics, 2007
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007