Global ETD Search
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Showing 1 to 4 of 4 for “"DNA repair deficiencies"”.
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Role of inherited DNA repair deficiencies in cancer susceptibility and evolution
Multiple DNA surveillance and repair mechanisms act on the human genome, maintaining high replication fidelity and genome stability. Deficiencies in these processes result in an accumulation of post-zygotic mutations with characteristic signatures. This genomic instability is associated with the …
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DNA repair deficiencies as a biomarker for treatment response in acute myeloid leukaemia
… a DDRD and therefore would be more responsive to DNA damaging agents. This project hass assessed the potential of using the DDRD assay for AML patients. The assay was applied to publicly available microarray data of >600 AML patients who were classed as DDRD negative or DDRD positive. The assay …
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Quantifying the pro- and antimutagenic roles of DNA damage and repair
… evolution has supplied cells with a number of repair mechanisms to protect their genetic information; however, excessive exposures or defects in the repair machinery can lead to the accumulation of deleterious mutations which may cause a range of diseases including cancer. Different mutational …
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Assessing the impact of non-coding mutations on breast cancer risk predisposition genes
… genes (many of which function within the DNA damage response (DDR) pathway), in a cohort of Northern Irish (NI) BRCAx patients. This study aims to define the NI BRCAx population from a clinico-pathological perspective and examine the impact of identified non-coding variants on risk …