Ontology highlight
ABSTRACT:
SUBMITTER: Simpson BS
PROVIDER: S-EPMC8115686 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
Simpson Benjamin S BS Pye Hayley H Whitaker Hayley C HC
Communications biology 20210512 1
Recent developments in sequencing the cancer genome have provided the first in-depth mapping of structural variants (SV) across 38 tumour types. Sixteen signatures of structural variants have been proposed which broadly characterise the variation seen across cancer types. One signature shows increased duplications and deletions at fragile sites, with little association with the typical DNA repair defects. We discuss how, for many of these fragile sites, the clinical impacts are yet to be explore ...[more]