Mutational signatures: emerging concepts, caveats and clinical applications
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 …
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
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 …
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
Neuroendocrine neoplasms (NENs) comprise well-differentiated neuroendocrine tumors
(NETs) and poorly differentiated neuroendocrine carcinomas (NECs). Treatment options for …
(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 …
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 …
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
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 …
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 …
Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational …
Inferring parameters of cancer evolution in chronic lymphocytic leukemia
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 …
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
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 …
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 …
analysing their catalogue of somatic mutations and the DNA sequence context in which they …