Genomic landscape and chronological reconstruction of driver events in multiple myeloma [PDF]
Nature Communications, 2018 The multiple myeloma (MM) genome is heterogeneous and evolves through preclinical and post-diagnosis phases. Here we report a catalog and hierarchy of driver lesions using sequences from 67 MM genomes serially collected from 30 patients together with ...
F. Maura +27 more
semanticscholar +2 more sources
Chromoanagenesis, the mechanisms of a genomic chaos.
Seminars in Cell and Developmental Biology, 2021 Designated under the name of chromoanagenesis, the phenomena of chromothripsis, chromanasynthesis and chromoplexy constitute new types of complex rearrangements, including many genomic alterations localized on a few chromosomal regions, and whose ...
F. Pellestor +4 more
semanticscholar +2 more sources
From Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy. [PDF]
Hum MutatMultiple myeloma (MM) is characterized by genomic instability and therapeutic resistance. Emerging evidence indicates that germline DNA damage response (DDR) mutations, including BRCA1/2, ATM, and CHEK2 variants, contribute to MM susceptibility, clonal evolution, and treatment response. Inherited DDR defects promote chromosomal instability, reshape the
Shen Q, Wang Y, Cai L, Qian J.
europepmc +2 more sources
Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma [PDF]
Cancers, 2023 Deborah Tweddle +2 more
exaly +2 more sources
Frontiers in Genetics, 2021 Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes.
Christopher M. Grochowski +16 more
doaj +1 more source
Management strategies for patients with chronic lymphocytic leukaemia harbouring complex karyotype. [PDF]
Br J HaematolChronic Lymphocytic Leukaemia patients harbouring complex karyotype presents poor prognosis and limited treatment options due to its intrinsic genomic instability. This review aims to discuss the current understanding of such patient subset, including its molecular landscape, diagnostic approaches, treatment modalities and emerging therapies ...
Serafin A +6 more
europepmc +2 more sources
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.
GeneChromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy.
Federica Baldan +12 more
semanticscholar +2 more sources
, 2023 Recurrent regions of chromothripsis and chromoplexy together with the candidate genes located within the regions. A. CHromothripsis B.
Yubao Wang (16797557) +27 more
core +2 more sources
Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma. [PDF]
HemasphereAbstract Circulating tumor cells (CTCs) have emerged as a key prognostic factor in newly diagnosed multiple myeloma (NDMM). However, it remains unclear if high CTC counts represent a mere surrogate of tumor burden or might reflect a distinct genomic or transcriptomic entity.
Garces JJ +28 more
europepmc +2 more sources
Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review. [PDF]
J Oral Pathol MedABSTRACT Background Given the rarity and aggressive nature of osteosarcomas (OS) in the oral and maxillofacial region, understanding their molecular alterations is essential to improve diagnosis, prognosis, and guide targeted therapies. This study aimed to map molecular alterations associated with oral and maxillofacial OS, providing an overview of the
Ferreira IV +6 more
europepmc +2 more sources