ROS1 genomic rearrangements are rare actionable drivers in microsatellite stable colorectal cancer
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.34257
Abstract: c‐Ros oncogene 1, receptor tyrosine kinase (ROS1) genomic rearrangements have been reported previously in rare cases of colorectal cancer (CRC), yet little is known about the frequency, molecular characteristics, and therapeutic vulnerabilities of ROS1‐driven CRC.… read more here.
Keywords: ros1; crc; genomic rearrangements; ros1 genomic ... See more keywords
Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
Sign Up to like & getrecommendations! Published in 2021 at "Experimental and molecular pathology"
DOI: 10.1016/j.yexmp.2021.104705
Abstract: PARP inhibitors are used for treatment of tumors lacking function of the double-strand DNA break repair proteins BRCA1 or BRCA2 and are already approved for several cancer types. Thus, it is clinically crucial to determine… read more here.
Keywords: large genomic; brca1; ffpe tissue; brca1 brca2 ... See more keywords
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2022.2049247
Abstract: ABSTRACT Introduction Hereditary cancer predisposition syndromes are caused by germline pathogenic or likely pathogenic variants in cancer predisposition genes (CPG). The majority of pathogenic variants in CPGs are point mutations, but large gene rearrangements (LGRs)… read more here.
Keywords: occurrence large; comprehensive molecular; large genomic; genomic rearrangements ... See more keywords
Genomic rearrangements uncovered by genome-wide co-evolution analysis of a major nosocomial pathogen, Enterococcus faecium
Sign Up to like & getrecommendations! Published in 2020 at "Microbial Genomics"
DOI: 10.1099/mgen.0.000488
Abstract: Enterococcus faecium is a gut commensal of the gastro-digestive tract, but also known as nosocomial pathogen among hospitalized patients. Population genetics based on whole-genome sequencing has revealed that E. faecium strains from hospitalized patients form… read more here.
Keywords: enterococcus faecium; genome wide; evolution; nosocomial pathogen ... See more keywords
High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation
Sign Up to like & getrecommendations! Published in 2022 at "Genome Research"
DOI: 10.1101/gr.276028.121
Abstract: Genomic rearrangements are known to result in proto-oncogene deregulation in many cancers, but the link to genome 3D structure remains poorly understood. Here we used the highly-predictive heteromorphic polymer (HiP-HoP) model to predict chromatin conformations… read more here.
Keywords: ccnd1; proto oncogene; genomic rearrangements; oncogene deregulation ... See more keywords
Abstract 6080: Comprehensive profiling of pathogenic/likely pathogenic large genomic rearrangements in pan cancer samples
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-6080
Abstract: Background: Correlations between large genomic rearrangements (LGRs) and cancer types beyond breast or ovarian cancer have not been sufficiently profiled, likely due to the highly inefficient methods of detecting these types of mutations. Methods: This… read more here.
Keywords: pathogenic likely; pan cancer; large genomic; genomic rearrangements ... See more keywords
Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical laboratory"
DOI: 10.7754/clin.lab.2021.210609
Abstract: BACKGROUND Next-generation sequencing (NGS) has been implemented as a rapid and cost-effective BRCA1/2 test strategy. The Oncomine™ BRCA Research Assay is an NGS-based tool for simultaneous detection of small-scale mutations and large genomic rearrangements (LGRs).… read more here.
Keywords: ngs assay; large genomic; genomic rearrangements; next generation ... See more keywords