[HTML][HTML] Mechanisms of gene duplication and amplification

AB Reams, JR Roth - Cold Spring Harbor perspectives …, 2015 - cshperspectives.cshlp.org
Abstract Changes in gene copy number are among the most frequent mutational events in
all genomes and were among the mutations for which a physical basis was first known. Yet …

Chromothripsis: chromosomes in crisis

MJK Jones, PV Jallepalli - Developmental cell, 2012 - cell.com
During oncogenesis, cells acquire multiple genetic alterations that confer essential tumor-
specific traits, including immortalization, escape from antimitogenic signaling …

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

T Rausch, DTW Jones, M Zapatka, AM Stütz, T Zichner… - Cell, 2012 - cell.com
Genomic rearrangements are thought to occur progressively during tumor development.
Recent findings, however, suggest an alternative mechanism, involving massive …

Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma

A Srinivasan, DW Bianchi, H Huang, AJ Sehnert… - The American Journal of …, 2013 - cell.com
The purpose of this study was to determine the deep sequencing and analytic conditions
needed to detect fetal subchromosome abnormalities across the genome from a maternal …

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

A Malhotra, M Lindberg, GG Faust… - Genome …, 2013 - genome.cshlp.org
Tumor genomes are generally thought to evolve through a gradual accumulation of
mutations, but the observation that extraordinarily complex rearrangements can arise …

The Genome Sequence of the North-European Cucumber (Cucumis sativus L.) Unravels Evolutionary Adaptation Mechanisms in Plants

R Wóycicki, J Witkowicz, P Gawroński, J Dąbrowska… - PloS one, 2011 - journals.plos.org
Cucumber (Cucumis sativus L.), a widely cultivated crop, has originated from Eastern
Himalayas and secondary domestication regions includes highly divergent climate …

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

S Le Scouarnec, SM Gribble - Heredity, 2012 - nature.com
Genomic rearrangements can result in losses, amplifications, translocations and inversions
of DNA fragments thereby modifying genome architecture, and potentially having clinical …

Structural analysis of the genome of breast cancer cell line ZR-75-30 identifies twelve expressed fusion genes

I Schulte, EM Batty, JCM Pole, KA Blood, S Mo… - BMC genomics, 2012 - Springer
Background It has recently emerged that common epithelial cancers such as breast cancers
have fusion genes like those in leukaemias. In a representative breast cancer cell line, ZR …

Location of balanced chromosome-translocation breakpoints by long-read sequencing on the Oxford nanopore platform

L Hu, F Liang, D Cheng, Z Zhang, G Yu, J Zha… - Frontiers in …, 2020 - frontiersin.org
Genomic structural variants, including translocations, inversions, insertions, deletions, and
duplications, are challenging to be reliably detected by traditional genomic technologies. In …

The role of tandem duplicator phenotype in tumour evolution in high‐grade serous ovarian cancer

CKY Ng, SL Cooke, K Howe, S Newman… - The Journal of …, 2012 - Wiley Online Library
High‐grade serous ovarian carcinoma (HGSOC) is characterized by genomic instability,
ubiquitous TP53 loss, and frequent development of platinum resistance. Loss of …