Intragenomic variability and extended sequence patterns in the mutational signature of ultraviolet light
Sign Up to like & getrecommendations! Published in 2019 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1909021116
Abstract: Significance Mutational signatures have emerged as essential tools in cancer genomics, providing clinically relevant insights as well as accurate background models needed when assessing signals of selection in cancer. Here, we observe that the mutational… read more here.
Keywords: signature ultraviolet; ultraviolet light; signature; cancer ... See more keywords
Sigflow: an automated and comprehensive pipeline for cancer genome mutational signature analysis
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btaa895
Abstract: Abstract Summary Mutational signatures are recurring DNA alteration patterns caused by distinct mutational events during the evolution of cancer. In recent years, several bioinformatics tools are available for mutational signature analysis. However, most of them… read more here.
Keywords: signature analysis; pipeline; analysis; signature ... See more keywords
A lung-specific mutational signature enables inference of viral and bacterial respiratory niche.
Sign Up to like & getrecommendations! Published in 2023 at "Microbial genomics"
DOI: 10.1099/mgen.0.001018
Abstract: Exposure to different mutagens leaves distinct mutational patterns that can allow inference of pathogen replication niches. We therefore investigated whether SARS-CoV-2 mutational spectra might show lineage-specific differences, dependent on the dominant site(s) of replication and… read more here.
Keywords: mutational signature; specific mutational; enables inference; lung specific ... See more keywords
In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors.
Sign Up to like & getrecommendations! Published in 2018 at "Genome research"
DOI: 10.1101/gr.230219.117
Abstract: Cisplatin reacts with DNA and thereby likely generates a characteristic pattern of somatic mutations, called a mutational signature. Despite widespread use of cisplatin in cancer treatment and its role in contributing to secondary malignancies, its… read more here.
Keywords: secondary malignancies; cisplatin; hepatocellular carcinomas; cisplatin mutational ... See more keywords
Mutational Signature 3 Detected from Clinical Panel Sequencing is Associated with Responses to Olaparib in Breast and Ovarian Cancers
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-22-0749
Abstract: Abstract Purpose: The identification of patients with homologous recombination deficiency (HRD) beyond BRCA1/2 mutations is an urgent task, as they may benefit from PARP inhibitors. We have previously developed a method to detect mutational signature… read more here.
Keywords: panel sequencing; mutational signature; sequencing data; panel ... See more keywords
Abstract 3405: A mutational signature associated with alcohol consumption and prognostically mutated driver genes in esophageal squamous cell carcinoma
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-3405
Abstract: Aim: Esophageal squamous cell carcinoma (ESCC) is often diagnosed at advanced and incurable stage. Information on driver genes and prognosticators in ESCC remains incomplete. Herein, we elucidated significantly mutated genes (SMGs), mutational signatures, and prognosticators… read more here.
Keywords: alcohol consumption; esophageal squamous; mutational signature; signature ... See more keywords
iMutSig: a web application to identify the most similar mutational signature using shiny.
Sign Up to like & getrecommendations! Published in 2020 at "F1000Research"
DOI: 10.12688/f1000research.24435.1
Abstract: There are two frameworks for characterizing mutational signatures which are commonly used to describe the nucleotide patterns that arise from mutational processes. Estimated mutational signatures from fitting these two methods in human cancer can be… read more here.
Keywords: web application; imutsig web; signature; mutational signatures ... See more keywords
Mutational signatures representative transcriptomic perturbations in hepatocellular carcinoma
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.970907
Abstract: Hepatocellular carcinoma (HCC) is a primary malignancy with increasing incidence and poor prognosis. Heterogeneity originating from genomic instability is one of the critical reasons of poor outcomes. However, the studies of underlying mechanisms and pathways… read more here.
Keywords: hepatocellular carcinoma; mutational signature; coding rnas; hcc ... See more keywords
Unraveling the Heterogeneous Mutational Signature of Spontaneously Developing Tumors in MLH1−/− Mice
Sign Up to like & getrecommendations! Published in 2019 at "Cancers"
DOI: 10.3390/cancers11101485
Abstract: Mismatch repair deficient (MMR-D) tumors exemplify the prototypic hypermutator phenotype. Owing to the high mutation rates, plenty of neo-antigens are present on the tumor cells’ surface, ideally shared among different cancer types. The MLH1 knock… read more here.
Keywords: unraveling heterogeneous; developing tumors; spontaneously developing; signature spontaneously ... See more keywords
Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature
Sign Up to like & getrecommendations! Published in 2021 at "Cancers"
DOI: 10.3390/cancers13040754
Abstract: Simple Summary Retinoblastoma, a childhood cancer of the eye, is thought to be caused by inactivating mutations of both copies of the RB1 gene. The majority of RB1 mutations can be detected by clinical screening.… read more here.
Keywords: whole genome; retinoblastoma; genome sequencing; rb1 ... See more keywords
APOBEC SBS13 Mutational Signature—A Novel Predictor of Radioactive Iodine Refractory Papillary Thyroid Carcinoma
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14061584
Abstract: Simple Summary Around 15% of papillary thyroid carcinoma (PTC) patients are not cured using standard surgery followed by radioactive iodine (RAI) therapy, and instead develop refractory disease. The aim of this study was to help… read more here.
Keywords: rai refractoriness; ptc; rai refractory; mutational signature ... See more keywords