Revealing an internal stabilization deficiency in the DNA polymerase β K289M cancer variant through combined use of chemical biology and X-ray crystallography.
Sign Up to like & getrecommendations! Published in 2020 at "Biochemistry"
DOI: 10.1021/acs.biochem.9b01072
Abstract: The human DNA polymerase (pol) β cancer variant K289M has altered polymerase activity in vitro, and the structure of wild-type pol β reveals that the K289 side chain contributes to a network of stabilizing interactions… read more here.
Keywords: k289m; active site; polymerase; biology ... See more keywords
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac979
Abstract: Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more prevalent in cancer management,… read more here.
Keywords: civicdb; variant interpretation; knowledgebase; interpretation ... See more keywords
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Sign Up to like & getrecommendations! Published in 2019 at "Genome research"
DOI: 10.1101/gr.250357.119
Abstract: Variant interpretation in the era of massively parallel sequencing is challenging. Although many resources and guidelines are available to assist with this task, few integrated end-to-end tools exist. Here, we present the Pediatric Cancer Variant… read more here.
Keywords: pecanpie; pediatric cancer; variant pathogenicity; cancer variant ... See more keywords
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106759
Abstract: Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing… read more here.
Keywords: interpretation; group canvig; interpretation group; cancer variant ... See more keywords