Abstract MS2-2: MS2-2 The latest breakthroughs on the translational aspects of DNA repair pathways

Genomic instability exists in the majority of human cancer, and there is an underlying DNA repair defect driving the instability in most cases. There are seven defined DNA repair pathways that, when inactive, can produce genome wide patterns of mutations. Current cancer genomics can provide a signif...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 2017-02, Vol.77 (4_Supplement), p.MS2-2-MS2-2
Main Author: Powell, SN
Format: Article
Language:English
Online Access:Get full text
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Summary:Genomic instability exists in the majority of human cancer, and there is an underlying DNA repair defect driving the instability in most cases. There are seven defined DNA repair pathways that, when inactive, can produce genome wide patterns of mutations. Current cancer genomics can provide a significant insight into the underlying DNA repair defect. This information can be used to select targeted therapies or suggest a more likely response to immune checkpoint blockade. To use acquired homologous recombination (HR) deficiency as an example of this paradigm, we have found that large scale genomic rearrangements and segmental copy number changes are found in breast cancers without a known germline mutation and see a strong link to biallelic alterations in homologous recombination genes. We detected a genetic etiology of HR deficiency in 90% of studied HR-deficient cases, whereas HR-proficient tumors only showed biallelic HR gene mutations in
ISSN:0008-5472
1538-7445
DOI:10.1158/1538-7445.SABCS16-MS2-2