Cancer driver mutations: predictions and reality

D Ostroverkhova, TM Przytycka… - Trends in Molecular …, 2023 - cell.com
Cancer cells accumulate many genetic alterations throughout their lifetime, but only a few of
them drive cancer progression, termed driver mutations. Driver mutations may vary between …

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 …

Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy

D Mas-Ponte, M McCullough, F Supek - Clinical Science, 2022 - portlandpress.com
Genome sequencing can be used to detect DNA repair failures in tumors and learn about
underlying mechanisms. Here, we synthesize findings from genomic studies that examined …

MUSE-XAE: MUtational Signature Extraction with eXplainable AutoEncoder enhances tumour types classification

C Pancotti, C Rollo, F Codicè, G Birolo, P Fariselli… - …, 2024 - academic.oup.com
Motivation Mutational signatures are a critical component in deciphering the genetic
alterations that underlie cancer development and have become a valuable resource to …

Accurate and sensitive mutational signature analysis with MuSiCal

H Jin, DC Gulhan, B Geiger, D Ben-Isvy, D Geng… - Nature Genetics, 2024 - nature.com
Mutational signature analysis is a recent computational approach for interpreting somatic
mutations in the genome. Its application to cancer data has enhanced our understanding of …

[HTML][HTML] Recent Advances in Genomic Approaches for the Detection of Homologous Recombination Deficiency

YN Kim, DC Gulhan, H Jin… - Cancer Research and …, 2024 - synapse.koreamed.org
Accurate detection of homologous recombination deficiency (HRD) in cancer patients is
paramount in clinical applications, as HRD confers sensitivity to poly (ADP-ribose) …

Identification of multiplicatively acting modulatory mutational signatures in cancer

D Kičiatovas, Q Guo, M Kailas, H Pesonen… - BMC …, 2022 - Springer
Background A deep understanding of carcinogenesis at the DNA level underpins many
advances in cancer prevention and treatment. Mutational signatures provide a breakthrough …

Emerging topics in cancer evolution

M El-Kebir, Q Morris, L Oesper… - PACIFIC SYMPOSIUM …, 2021 - World Scientific
Cancer results from an evolutionary process that yields a heterogeneous tumor with distinct
subpopulations and varying sets of somatic mutations. This perspective discusses …

[PDF][PDF] Developing Clinical Potential of Mutational Signatures: Insights from Formalin-Fixed Biopsies and MSI-High Tumours

Q Guo - 2023 - helda.helsinki.fi
The advancement of cancer is driven by the accumulation of somatic mutations arising from
various mutational processes within the individual's lifetime. A specific mutational process …

Decomposing the mutational landscape of cancer genomes with RepairSig

S Bernardo, M Meyenberg, JI Loizou - Cell Systems, 2021 - cell.com
Mutational signatures are the outcomes of mutagenic processes that occur prior to, and
during, tumorigenesis as a result of DNA damage, DNA repair, and DNA replication. In this …