| Title: |
The oncological relevance of fragile sites in cancer |
| Authors: |
Simpson, BS; Pye, H; Whitaker, HC |
| Source: |
Communications Biology , 4 (1) , Article 567. (2021) |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2021 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Cancer genomics; Mechanisms of disease; Prognostic markers |
| Description: |
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 explored. One example is NAALADL2, one of the most frequently altered fragile sites in the cancer genome. The copy-number variations (CNVs) which occur at fragile sites, such as NAALADL2, may span many genes without typical DNA repair defects and could have a large impact on cell signalling. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10127822/1/Ben%203Q%20comment.pdf; https://discovery.ucl.ac.uk/id/eprint/10127822/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10127822/1/Ben%203Q%20comment.pdf; https://discovery.ucl.ac.uk/id/eprint/10127822/ |
| Rights: |
open |
| Accession Number: |
edsbas.A0BD5DC1 |
| Database: |
BASE |