Homologous recombination deficiency: How genomic signatures are generated Review


Authors: Setton, J.; Reis-Filho, J. S.; Powell, S. N.
Review Title: Homologous recombination deficiency: How genomic signatures are generated
Abstract: Cancer genomes harbor mutational and structural rearrangements that are jointly shaped by DNA damage and repair mechanisms. Accumulating evidence suggests that genetic alterations in DNA repair-defective tumors reflect the scars caused by the use of backup DNA repair mechanisms needed to maintain cellular viability. Detailed analysis of the patterns of mutations and structural rearrangements present in BRCA1/2-deficient tumors has allowed for the delineation of genomic signatures that reflect alternative repair with inactive homologous recombination (HR). Here we aim to summarize recent advances in the analysis of genomic signatures associated with HR-deficiency and examine recent studies that have shed light on the backup repair mechanisms responsible for genomic scarring in HR-deficient tumors. © 2021
Journal Title: Current Opinion in Genetics and Development
Volume: 66
ISSN: 0959-437X
Publisher: Elsevier Inc.  
Date Published: 2021-02-01
Start Page: 93
End Page: 100
Language: English
DOI: 10.1016/j.gde.2021.01.002
PROVIDER: scopus
PUBMED: 33477018
PMCID: PMC8377996
DOI/URL:
Notes: Review -- Export Date: 1 February 2021 -- Source: Scopus
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  1. Simon Nicholas Powell
    331 Powell
  2. Jeremy Setton
    93 Setton