An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Sign Up to like & getrecommendations! Published in 2017 at "Cell"
DOI: 10.1016/j.cell.2017.01.037
Abstract: De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV) phenomenon in which individuals with genomic… read more here.
Keywords: phenotype restricted; organismal cnv; cnv mutator; mutator phenotype ... See more keywords
Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2114024119
Abstract: Significance Topoisomerases are crucial for genome maintenance and are targets for several chemotherapeutic agents. While anticancer drugs targeting topoisomerases can lead to secondary malignancies, there have been no descriptions of genetic defects in topoisomerases having… read more here.
Keywords: undescribed mutator; cleavage; topoisomerase; previously undescribed ... See more keywords
The Mutator Phenotype: Adapting Microbial Evolution to Cancer Biology
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00713
Abstract: The mutator phenotype hypothesis was postulated almost 40 years ago to reconcile the observation that while cancer cells display widespread mutational burden, acquisition of mutations in non-transformed cells is a rare event. Moreover, it also… read more here.
Keywords: evolution; mutator phenotype; phenotype adapting; biology ... See more keywords