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 …
Sarcoma treatment in the era of molecular medicine
Sarcomas are heterogeneous and clinically challenging soft tissue and bone cancers.
Although constituting only 1% of all human malignancies, sarcomas represent the second …
Although constituting only 1% of all human malignancies, sarcomas represent the second …
Signatures of copy number alterations in human cancer
Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …
A pan-cancer compendium of chromosomal instability
Chromosomal instability (CIN) results in the accumulation of large-scale losses, gains and
rearrangements of DNA. The broad genomic complexity caused by CIN is a hallmark of …
rearrangements of DNA. The broad genomic complexity caused by CIN is a hallmark of …
Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA
Clustered somatic mutations are common in cancer genomes and previous analyses reveal
several types of clustered single-base substitutions, which include doublet-and multi-base …
several types of clustered single-base substitutions, which include doublet-and multi-base …
Metastasis and immune evasion from extracellular cGAMP hydrolysis
Cytosolic DNA is characteristic of chromosomally unstable metastatic cancer cells, resulting
in constitutive activation of the cGAS–STING innate immune pathway. How tumors co-opt …
in constitutive activation of the cGAS–STING innate immune pathway. How tumors co-opt …
A practical guide to cancer subclonal reconstruction from DNA sequencing
M Tarabichi, A Salcedo, AG Deshwar… - Nature …, 2021 - nature.com
Subclonal reconstruction from bulk tumor DNA sequencing has become a pillar of cancer
evolution studies, providing insight into the clonality and relative ordering of mutations and …
evolution studies, providing insight into the clonality and relative ordering of mutations and …
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity
To increase understanding of the genomic landscape of acral melanoma, a rare form of
melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors …
melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors …
SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events
Background Cancer genomes are peppered with somatic mutations imprinted by different
mutational processes. The mutational pattern of a cancer genome can be used to identify …
mutational processes. The mutational pattern of a cancer genome can be used to identify …
Spatiotemporal genomic profiling of intestinal metaplasia reveals clonal dynamics of gastric cancer progression
Intestinal metaplasia (IM) is a pre-malignant condition of the gastric mucosa associated with
increased gastric cancer (GC) risk. Analyzing 1,256 gastric samples (1,152 IMs) across 692 …
increased gastric cancer (GC) risk. Analyzing 1,256 gastric samples (1,152 IMs) across 692 …