150 89

The topography of mutational processes in breast cancer genomes

Title
The topography of mutational processes in breast cancer genomes
Author
공구
Keywords
MISMATCH REPAIR; HOMOLOGOUS-RECOMBINATION; CHROMATIN ORGANIZATION; FISSION YEAST; ABASIC SITE; MATING-TYPE; DNA-REPAIR; REPLICATION; SIGNATURES; SPECIFICITY
Issue Date
2016-05
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE COMMUNICATIONS, v. 7, Page. 1-11
Abstract
Somatic mutations in human cancers show unevenness in genomic distribution that correlate with aspects of genome structure and function. These mutations are, however, generated by multiple mutational processes operating through the cellular lineage between the fertilized egg and the cancer cell, each composed of specific DNA damage and repair components and leaving its own characteristic mutational signature on the genome. Using somatic mutation catalogues from 560 breast cancer whole-genome sequences, here we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 rearrangement mutational signatures present in breast tissue, exhibit distinct relationships with genomic features relating to transcription, DNA replication and chromatin organization. This signature-based approach permits visualization of the genomic distribution of mutational processes associated with APOBEC enzymes, mismatch repair deficiency and homologous recombinational repair deficiency, as well as mutational processes of unknown aetiology. Furthermore, it highlights mechanistic insights including a putative replication-dependent mechanism of APOBEC-related mutagenesis.
URI
https://www.nature.com/articles/ncomms11383https://repository.hanyang.ac.kr/handle/20.500.11754/71467
ISSN
2041-1723
DOI
10.1038/ncomms11383
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
Files in This Item:
The topography of mutational processes in breast cancer genomes.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE