Articles with "base substitution" as a keyword



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Loss of BRCA1 or BRCA2 markedly increases the rate of base substitution mutagenesis and has distinct effects on genomic deletions

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Published in 2017 at "Oncogene"

DOI: 10.1038/onc.2016.243

Abstract: Loss-of-function mutations in the BRCA1 and BRCA2 genes increase the risk of cancer. Owing to their function in homologous recombination repair, much research has focused on the unstable genomic phenotype of BRCA1/2 mutant cells manifest… read more here.

Keywords: mutagenesis; brca1; brca1 brca2; base substitution ... See more keywords
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The repertoire of mutational signatures in human cancer

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Published in 2020 at "Nature"

DOI: 10.1038/s41586-020-1943-3

Abstract: Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature 1 . Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium 2 of… read more here.

Keywords: human cancer; cancer; base substitution; mutational signatures ... See more keywords