Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes

SC Dentro, I Leshchiner, K Haase, M Tarabichi… - Cell, 2021 - cell.com
Intra-tumor heterogeneity (ITH) is a mechanism of therapeutic resistance and therefore an
important clinical challenge. However, the extent, origin, and drivers of ITH across cancer …

Druggable growth dependencies and tumor evolution analysis in patient-derived organoids of neuroendocrine neoplasms from multiple body sites

TL Dayton, N Alcala, L Moonen, L den Hartigh… - Cancer Cell, 2023 - cell.com
Neuroendocrine neoplasms (NENs) comprise well-differentiated neuroendocrine tumors
(NETs) and poorly differentiated neuroendocrine carcinomas (NECs). Treatment options for …

Mutational signatures: From methods to mechanisms

YA Kim, MDM Leiserson, P Moorjani… - Annual Review of …, 2021 - annualreviews.org
Mutations are the driving force of evolution, yet they underlie many diseases, in particular,
cancer. They are thought to arise from a combination of stochastic errors in DNA processing …

Analysis of mutational signatures with yet another package for signature analysis

D Hübschmann, L Jopp‐Saile… - Genes …, 2021 - Wiley Online Library
Different mutational processes leave characteristic patterns of somatic mutations in the
genome that can be identified as mutational signatures. Determining the contributions of …

Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer

Z Li, NS Spoelstra, MJ Sikora, SB Sams, A Elias… - NPJ Breast …, 2022 - nature.com
Both TP53 and ESR1 mutations occur frequently in estrogen receptor positive (ER+)
metastatic breast cancers (MBC) and their distinct roles in breast cancer tumorigenesis and …

Mutational topography reflects clinical neuroblastoma heterogeneity

E Rodriguez-Fos, M Planas-Fèlix, M Burkert… - Cell Genomics, 2023 - cell.com
Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity.
Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational …

Inferring parameters of cancer evolution in chronic lymphocytic leukemia

ND Lee, I Bozic - PLOS Computational Biology, 2022 - journals.plos.org
As a cancer develops, its cells accrue new mutations, resulting in a heterogeneous, complex
genomic profile. We make use of this heterogeneity to derive simple, analytic estimates of …

DeCiFering the elusive cancer cell fraction in tumor heterogeneity and evolution

G Satas, S Zaccaria, M El-Kebir, BJ Raphael - Cell systems, 2021 - cell.com
The cancer cell fraction (CCF), or proportion of cancerous cells in a tumor containing a
single-nucleotide variant (SNV), is a fundamental statistic used to quantify tumor …

Mutational signatures and processes in hepatobiliary cancers

E Zhuravleva, CJ O'Rourke, JB Andersen - … Reviews Gastroenterology & …, 2022 - nature.com
The evolutionary history of hepatobiliary cancers is embedded in their genomes. By
analysing their catalogue of somatic mutations and the DNA sequence context in which they …