Aneuploidy and complex genomic rearrangements in cancer evolution

TM Baker, S Waise, M Tarabichi, P Van Loo - Nature cancer, 2024 - nature.com
Mutational processes that alter large genomic regions occur frequently in developing
tumors. They range from simple copy number gains and losses to the shattering and …

Multiomics network medicine approaches to precision medicine and therapeutics in cardiovascular diseases

RS Wang, BA Maron, J Loscalzo - Arteriosclerosis, thrombosis, and …, 2023 - Am Heart Assoc
Cardiovascular diseases (CVD) are the leading cause of death worldwide and display
complex phenotypic heterogeneity caused by many convergent processes, including …

[HTML][HTML] Ovarian cancer mutational processes drive site-specific immune evasion

I Vázquez-García, F Uhlitz, N Ceglia, JLP Lim, M Wu… - Nature, 2022 - nature.com
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability,,–
patterned by distinct mutational processes,, tumour heterogeneity,–and intraperitoneal …

Live birth of chimeric monkey with high contribution from embryonic stem cells

J Cao, W Li, J Li, MA Mazid, C Li, Y Jiang, W Jia, L Wu… - Cell, 2023 - cell.com
A formal demonstration that mammalian pluripotent stem cells possess preimplantation
embryonic cell-like (naive) pluripotency is the generation of chimeric animals through early …

[HTML][HTML] Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns

EV Watson, JJK Lee, DC Gulhan, GEM Melloni… - Nature Genetics, 2024 - nature.com
Whole chromosome and arm-level copy number alterations occur at high frequencies in
tumors, but their selective advantages, if any, are poorly understood. Here, utilizing …

[HTML][HTML] Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells

H Shi, MJ Williams, G Satas, AC Weiner… - Nature …, 2024 - nature.com
Subclonal copy number alterations are a prevalent feature in tumors with high chromosomal
instability and result in heterogeneous cancer cell populations with distinct phenotypes …

[HTML][HTML] Refphase: Multi-sample phasing reveals haplotype-specific copy number heterogeneity

TBK Watkins, EC Colliver, MR Huska… - PLoS computational …, 2023 - journals.plos.org
Most computational methods that infer somatic copy number alterations (SCNAs) from bulk
sequencing of DNA analyse tumour samples individually. However, the sequencing of …

Targeting chromosomal instability in patients with cancer

DH Al-Rawi, E Lettera, J Li, M DiBona… - Nature Reviews Clinical …, 2024 - nature.com
Chromosomal instability (CIN) is a hallmark of cancer and a driver of metastatic
dissemination, therapeutic resistance, and immune evasion. CIN is present in 60–80% of …

[HTML][HTML] Disentangling the roles of aneuploidy, chromosomal instability and tumour heterogeneity in developing resistance to cancer therapies

JR Andrade, AD Gallagher, J Maharaj… - Chromosome …, 2023 - Springer
Aneuploidy is defined as the cellular state of having a number of chromosomes that deviates
from a multiple of the normal haploid chromosome number of a given organism. Aneuploidy …

[HTML][HTML] Multi-scale characterisation of homologous recombination deficiency in breast cancer

DH Jacobson, S Pan, J Fisher, M Secrier - Genome Medicine, 2023 - Springer
Background Homologous recombination is a robust, broadly error-free mechanism of double-
strand break repair, and deficiencies lead to PARP inhibitor sensitivity. Patients displaying …