Aneuploidy in human cancer: new tools and perspectives

AA Lakhani, SL Thompson, JM Sheltzer - Trends in Genetics, 2023 - cell.com
Chromosome copy number imbalances, otherwise known as aneuploidies, are a common
but poorly understood feature of cancer. Here, we describe recent advances in both …

Oncogene-like addiction to aneuploidy in human cancers

V Girish, AA Lakhani, SL Thompson, CM Scaduto… - Science, 2023 - science.org
Most cancers exhibit aneuploidy, but its functional significance in tumor development is
controversial. Here, we describe ReDACT (Restoring Disomy in Aneuploid cells using …

Chromosomal instability accelerates the evolution of resistance to anti-cancer therapies

DA Lukow, EL Sausville, P Suri, NK Chunduri… - Developmental cell, 2021 - cell.com
Aneuploidy is a ubiquitous feature of human tumors, but the acquisition of aneuploidy
typically antagonizes cellular fitness. To investigate how aneuploidy could contribute to …

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

M Kneissig, K Keuper, MS de Pagter… - Elife, 2019 - elifesciences.org
Cancer cells often harbor chromosomes in abnormal numbers and with aberrant structure.
The consequences of these chromosomal aberrations are difficult to study in cancer, and …

Single-chromosomal gains can function as metastasis suppressors and promoters in colon cancer

A Vasudevan, PS Baruah, JC Smith, Z Wang… - Developmental Cell, 2020 - cell.com
High levels of cancer aneuploidy are frequently associated with poor prognosis. To examine
the relationship between aneuploidy and cancer progression, we analyzed a series of …

Patient-derived triple-negative breast cancer organoids provide robust model systems that recapitulate tumor intrinsic characteristics

S Bhatia, M Kramer, S Russo, P Naik, G Arun, K Brophy… - Cancer research, 2022 - AACR
Triple-negative breast cancer (TNBC) is an aggressive form of breast cancer with poor
patient outcomes, highlighting the unmet clinical need for targeted therapies and better …

iCopyDAV: Integrated platform for copy number variations—Detection, annotation and visualization

P Dharanipragada, S Vogeti, N Parekh - PLoS One, 2018 - journals.plos.org
Discovery of copy number variations (CNVs), a major category of structural variations, have
dramatically changed our understanding of differences between individuals and provide an …

High resolution copy number inference in cancer using short-molecule nanopore sequencing

T Baslan, S Kovaka, FJ Sedlazeck, Y Zhang… - Nucleic acids …, 2021 - academic.oup.com
Genome copy number is an important source of genetic variation in health and disease. In
cancer, Copy Number Alterations (CNAs) can be inferred from short-read sequencing data …

The human origin recognition complex is essential for pre-RC assembly, mitosis, and maintenance of nuclear structure

HC Chou, K Bhalla, OEL Demerdesh, O Klingbeil… - Elife, 2021 - elifesciences.org
The origin recognition complex (ORC) cooperates with CDC6, MCM2-7, and CDT1 to form
pre-RC complexes at origins of DNA replication. Here, using tiling-sgRNA CRISPR screens …

[HTML][HTML] Diagnostic yields of trio-WES accompanied by CNVseq for rare neurodevelopmental disorders

C Gao, X Wang, S Mei, XA Yang - Frontiers in genetics, 2019 - frontiersin.org
Objective This study is to investigate the diagnostic yield of the combination of trio whole
exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare …