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 …

Signatures of copy number alterations in human cancer

CD Steele, A Abbasi, SMA Islam, AL Bowes… - Nature, 2022 - nature.com
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 …

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara… - Cell genomics, 2022 - cell.com
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

An overview of mutational and copy number signatures in human cancer

CD Steele, N Pillay, LB Alexandrov - The Journal of Pathology, 2022 - Wiley Online Library
The genome of each cell in the human body is constantly under assault from a plethora of
exogenous and endogenous processes that can damage DNA. If not successfully repaired …

Multi-omic profiling of clear cell renal cell carcinoma identifies metabolic reprogramming associated with disease progression

J Hu, SG Wang, Y Hou, Z Chen, L Liu, R Li, N Li… - Nature Genetics, 2024 - nature.com
Clear cell renal cell carcinoma (ccRCC) is a complex disease with remarkable immune and
metabolic heterogeneity. Here we perform genomic, transcriptomic, proteomic, metabolomic …

[HTML][HTML] An immunogenic and oncogenic feature-based classification for chemotherapy plus PD-1 blockade in advanced esophageal squamous cell carcinoma

YX Chen, ZX Wang, Y Jin, Q Zhao, ZX Liu, ZX Zuo… - Cancer Cell, 2023 - cell.com
Although chemotherapy plus PD-1 blockade (chemo+ anti-PD-1) has become the standard
first-line therapy for advanced esophageal squamous cell carcinoma (ESCC), reliable …

[HTML][HTML] APOBEC-mediated mutagenesis is a favorable predictor of prognosis and immunotherapy for bladder cancer patients: evidence from pan-cancer analysis and …

R Shi, X Wang, Y Wu, B Xu, T Zhao, C Trapp… - Theranostics, 2022 - ncbi.nlm.nih.gov
Background: The APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-
like) family-mediated mutagenesis is widespread in human cancers. However, our …

Clonal dynamics and Stereo-seq resolve origin and phenotypic plasticity of adenosquamous carcinoma

R Zhao, Y Xu, Y Chen, J Zhang, F Teng, S Liao… - NPJ Precision …, 2023 - nature.com
The genomic origin and development of the biphasic lung adenosquamous carcinoma
(ASC) remain inconclusive. Here, we derived potential evolutionary trajectory of ASC …

Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse

H de Traux de Wardin, JK Dermawan… - NPJ Precision …, 2023 - nature.com
The genomic spectrum of rhabdomyosarcoma (RMS) progression from primary to relapse is
not fully understood. In this pilot study, we explore the sensitivity of various targeted and …

Distinct genomic landscapes in radiation‐associated angiosarcoma compared with other radiation‐associated sarcoma histologies

JK Dermawan, P Chi, WD Tap… - The Journal of …, 2023 - Wiley Online Library
MYC amplifications have been frequently detected in radiation (RT)‐associated
angiosarcomas (ASs) by low‐resolution molecular methods. However, large‐scale next …