Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …
comprehensive identification of somatic alterations using rigorous computational methods …
Pan-cancer whole-genome comparison of primary and metastatic solid tumours
F Martínez-Jiménez, A Movasati, SR Brunner… - Nature, 2023 - nature.com
Metastatic cancer remains an almost inevitably lethal disease,–. A better understanding of
disease progression and response to therapies therefore remains of utmost importance …
disease progression and response to therapies therefore remains of utmost importance …
Extrachromosomal DNA in cancer
In cancer, complex genome rearrangements and other structural alterations, including the
amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the …
amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the …
[HTML][HTML] ERα-associated translocations underlie oncogene amplifications in breast cancer
Focal copy-number amplification is an oncogenic event. Although recent studies have
revealed the complex structure,–and the evolutionary trajectories of oncogene amplicons …
revealed the complex structure,–and the evolutionary trajectories of oncogene amplicons …
APOBEC mutagenesis is a common process in normal human small intestine
APOBEC mutational signatures SBS2 and SBS13 are common in many human cancer
types. However, there is an incomplete understanding of its stimulus, when it occurs in the …
types. However, there is an incomplete understanding of its stimulus, when it occurs in the …
[HTML][HTML] Spontaneous mutagenesis in human cells is controlled by REV1-Polymerase ζ and PRIMPOL
Z Gyüre, Á Póti, E Németh, B Szikriszt, R Lózsa… - Cell Reports, 2023 - cell.com
Translesion DNA synthesis (TLS) facilitates replication over damaged or difficult-to-replicate
templates by employing specialized DNA polymerases. We investigate the effect on …
templates by employing specialized DNA polymerases. We investigate the effect on …
Genotype-phenotype map** of a patient-derived lung cancer organoid biobank identifies NKX2-1-defined Wnt dependency in lung adenocarcinoma
T Ebisudani, J Hamamoto, K Togasaki, A Mitsuishi… - Cell Reports, 2023 - cell.com
Human lung cancer is a constellation of tumors with various histological and molecular
properties. To build a preclinical platform that covers this broad disease spectrum, we …
properties. To build a preclinical platform that covers this broad disease spectrum, we …
Machine learning-based tissue of origin classification for cancer of unknown primary diagnostics using genome-wide mutation features
Cancers of unknown primary (CUP) origin account for∼ 3% of all cancer diagnoses,
whereby the tumor tissue of origin (TOO) cannot be determined. Using a uniformly …
whereby the tumor tissue of origin (TOO) cannot be determined. Using a uniformly …
Recent gene selection and drug resistance underscore clinical adaptation across Candida species
Understanding how microbial pathogens adapt to treatments, humans and clinical
environments is key to infer mechanisms of virulence, transmission and drug resistance …
environments is key to infer mechanisms of virulence, transmission and drug resistance …
Chromothripsis-mediated small cell lung carcinoma
N Rekhtman, SE Tischfield, CA Febres-Aldana… - Cancer …, 2025 - aacrjournals.org
Small cell lung carcinoma (SCLC) is a highly aggressive malignancy that is typically
associated with tobacco exposure and inactivation of RB1 and TP53 genes. Here, we …
associated with tobacco exposure and inactivation of RB1 and TP53 genes. Here, we …