Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
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 …

Extrachromosomal DNA in cancer

V Bafna, PS Mischel - Annual review of genomics and human …, 2022 - annualreviews.org
In cancer, complex genome rearrangements and other structural alterations, including the
amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the …

[HTML][HTML] ERα-associated translocations underlie oncogene amplifications in breast cancer

JJK Lee, YL Jung, TC Cheong, J Espejo Valle-Inclan… - Nature, 2023 - nature.com
Focal copy-number amplification is an oncogenic event. Although recent studies have
revealed the complex structure,–and the evolutionary trajectories of oncogene amplicons …

APOBEC mutagenesis is a common process in normal human small intestine

Y Wang, PS Robinson, THH Coorens, L Moore… - Nature …, 2023 - nature.com
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 …

[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 …

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 …

Machine learning-based tissue of origin classification for cancer of unknown primary diagnostics using genome-wide mutation features

L Nguyen, A Van Hoeck, E Cuppen - Nature communications, 2022 - nature.com
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 …

Recent gene selection and drug resistance underscore clinical adaptation across Candida species

MÀ Schikora-Tamarit, T Gabaldón - Nature Microbiology, 2024 - nature.com
Understanding how microbial pathogens adapt to treatments, humans and clinical
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 …