Results 151 to 160 of about 5,203 (193)

A breakage-replication/fusion process explains complex rearrangements and segmental DNA amplification. [PDF]

Nat Genet
Zhang CZ, Mendez-Dorantes C, Burns KH, Pellman D.   +3 more
europepmc   +1 more source

Cell-cycle dependent DNA repair and replication unifies patterns of chromosome instability. [PDF]

Nat Commun
Lu B, Winnall S, Cross W, Barnes CP.
europepmc   +1 more source

Allelic Imbalance and Chromothripsis Lead to Diversity in Japanese Tumor Genomes With Whole-Genome Duplication. [PDF]

Cancer Sci
Hatakeyama K, Nagashima T, Ohnami S, Ohnami S, Maruyama K, Ohshima K, Shimoda Y, Naruoka A, Kenmotsu H, Urakami K, Akiyama Y, Yamaguchi K.   +11 more
europepmc   +1 more source

Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. [PDF]

Nat Genet
Everall A, Tapinos A, Hawari A, Cornish AJ, Sud A, Chubb D, Kinnersley B, Frangou A, Barquin M, Jung J, Church DN, Alexandrov LB, Houlston RS, Gruber AJ, Wedge DC.   +14 more
europepmc   +1 more source

The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance. [PDF]

Mol Diagn Ther
Baďurová K, Kapustová V, Kotulová J, Brinsa V, Piherová L, Janoušek V, Pohludka M, Richtář M, Jelínek T, Hájek R, Chyra Z, Ševčíková T.   +11 more
europepmc   +1 more source

Tumor genome and microenvironment alteration by trastuzumab deruxtecan as neoadjuvant therapy for HER2-mutant NSCLC. [PDF]

Sci Rep
Li J, Lu X, Yue S, Hang R, Dai X, Kuang X, Guo W, Huang Z, Xiong Y, Li M.   +9 more
europepmc   +1 more source

Insight into the Molecular Basis Underlying Chromothripsis

International Journal of Molecular Sciences, 2022
Chromoanagenesis constitutes a group of events that arise from single cellular events during early development. This particular class of complex rearrangements is a newfound occurrence that may lead to chaotic and complex genomic realignments.
Monika Lejman
exaly   +5 more sources

Chromosomal rearrangements in uveal melanoma: Chromothripsis [PDF]

Genes Chromosomes and Cancer, 2018
Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX, and SF3B1 are described as well as non-random chromosomal aberrations.
Natasha Maria Van Poppelen, Jolanda Vaarwater, Annelies De Klein   +2 more
exaly   +6 more sources

Chromothripsis, DNA repair and checkpoints defects

Seminars in Cell and Developmental Biology, 2022
Chromothripsis is a unique form of genome instability characterized by tens to hundreds of DNA double-strand breaks on one or very few chromosomes, followed by error-prone repair. The derivative chromosome(s) display massive rearrangements, which lead to the loss of tumor suppressor function and to the activation of oncogenes.
Milena Simovic, Aurélie Ernst
exaly   +3 more sources

Chromothripsis in myeloid malignancies

Annals of Hematology
AbstractChromothripsis refers to massive genomic rearrangements developed during a catastrophic event. In total acute myeloid leukemia (AML), the incidence of chromothripsis ranges from 0 to 6.6%, in cases of complex karyotype AML, the incidence of chromothripsis ranges from 27.3 to 100%, whereas in cases of AML with TP53 mutations, the incidence ...
Chien-Yuan Chen
exaly   +3 more sources