Systematic Functional Annotation of Somatic Mutations in Cancer.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer cell"
DOI: 10.1016/j.ccell.2018.01.021
Abstract: The functional impact of the vast majority of cancer somatic mutations remains unknown, representing a critical knowledge gap for implementing precision oncology. Here, we report the development of a moderate-throughput functional genomic platform consisting of… read more here.
Keywords: functional annotation; annotation somatic; somatic mutations; mutations cancer ... See more keywords
Passenger Hotspot Mutations in Cancer.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer cell"
DOI: 10.1016/j.ccell.2019.08.002
Abstract: Current statistical models for assessing hotspot significance do not properly account for variation in site-specific mutability, thereby yielding many false-positives. We thus (i) detail a Log-normal-Poisson (LNP) background model that accounts for this variability in… read more here.
Keywords: hotspot mutations; passenger hotspot; mutations cancer; cancer ... See more keywords
Enhanced C/EBP binding to G·T mismatches facilitates fixation of CpG mutations in cancer and adult stem cells.
Sign Up to like & getrecommendations! Published in 2021 at "Cell reports"
DOI: 10.1016/j.celrep.2021.109221
Abstract: Somatic mutations in regulatory sites of human stem cells affect cell identity or cause malignant transformation. By mining the human genome for co-occurrence of mutations and transcription factor binding sites, we show that C/EBP binding… read more here.
Keywords: adult stem; cancer adult; ebp binding; mutations cancer ... See more keywords
ARID1A mutations in cancer development: mechanism and therapy.
Sign Up to like & getrecommendations! Published in 2023 at "Carcinogenesis"
DOI: 10.1093/carcin/bgad011
Abstract: AT-Rich Interaction Domain 1A (ARID1A) is an important SWItch/Sucrose NonFermentation (SWI/SNF) chromatin remodeling complex subunit, and its coding gene has a high mutation frequency in many cancers. Current studies have reported that ARID1A mutational status… read more here.
Keywords: mutations cancer; arid1a mutations; cancer development; mechanism ... See more keywords
CancerVar: An artificial intelligence–empowered platform for clinical interpretation of somatic mutations in cancer
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abj1624
Abstract: Several knowledgebases are manually curated to support clinical interpretations of thousands of hotspot somatic mutations in cancer. However, discrepancies or even conflicting interpretations are observed among these databases. Furthermore, many previously undocumented mutations may have… read more here.
Keywords: clinical interpretation; mutations cancer; interpretation somatic; somatic mutations ... See more keywords
The paradox of mutations and cancer
Sign Up to like & getrecommendations! Published in 2018 at "Science"
DOI: 10.1126/science.aav5697
Abstract: Esophageal tissue often contains driver mutations in people without cancer The past decade has witnessed the cataloging of genetic mutations in cancer genomes, providing new insights into how and in what ways cancer can develop… read more here.
Keywords: paradox mutations; mutations cancer; cancer; cancer genomes ... See more keywords
A New View of Activating Mutations in Cancer
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Research"
DOI: 10.1158/0008-5472.can-22-2125
Abstract: Abstract A vast effort has been invested in the identification of driver mutations of cancer. However, recent studies and observations call into question whether the activating mutations or the signal strength are the major determinant… read more here.
Keywords: mutations cancer; activating mutations; signal strength; cancer ... See more keywords
PRC2-Inactivating Mutations in Cancer Enhance Cytotoxic Response to DNMT1-Targeted Therapy via Enhanced Viral Mimicry
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Discovery"
DOI: 10.1158/2159-8290.cd-21-1671
Abstract: PRC2 inactivation in malignant peripheral nerve sheath tumors and melanoma potentiates DNMT1 inhibitor–mediated derepression of retrotransposons, which leads to increased immune pathway signaling and cell death through the double-stranded RNA sensor PKR. read more here.
Keywords: inactivating mutations; mutations cancer; enhance cytotoxic; cancer enhance ... See more keywords
BayesPI-BAR2: A New Python Package for Predicting Functional Non-coding Mutations in Cancer Patient Cohorts
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00282
Abstract: Most of somatic mutations in cancer occur outside of gene coding regions. These mutations may disrupt the gene regulation by affecting protein-DNA interaction. A study of these disruptions is important in understanding tumorigenesis. However, current… read more here.
Keywords: bayespi bar2; non coding; mutations cancer; coding mutations ... See more keywords