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Computational Biology of DNA-Repair in Adult and Pediatric Cancers - Dr. Glodzik

January 2, 2020 | 11:38 AM – 11:38 AM

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Dominik Glodzik, Ph.D.
Staff Scientist, Computational Oncology
Memorial Sloan Kettering Cancer Center, New York, NY


Whole genome sequences contain within them signatures of mutational processes. In particular, some of the mutation signatures relate to impaired DNA-repair in cancer cells. Accurate measurement of mutation signatures enables studies of the role of DNA-repair deficiencies in etiology and progression of cancer. 

We extended the computational methods for analysis of mutation signatures in order to describe patterns of chromosomal rearrangements. In particular, the rearrangement signatures enable the assessment of proficiency of homologous recombination (HR). HRDetect, an algorithm we developed, predicts probability of HR-deficiency, and is based on holistic portrayal of mutational signatures across different classes of somatic mutations. Around 20% of breast cancers contain signatures of HR-deficiency, and this group is wider than the group of carriers of BRCA1/2 mutations. By contrast to adult cancers, pediatric cancers with known DNA-repair defects display variation of mutational signatures, hinting at tissue-specificity of mutational signatures. Finally, in the chromosomally unstable cancers, we identified structural rearrangements, in coding and non-coding regions, that can act as cancer drivers. Altogether, these results indicate that computational assessment of DNA-repair capacity of tumor cells is now possible. The methods will be crucial to understanding biology of tumors, DNA-repair mechanisms and tissue-specificity of mutational processes.


Stephen Chanock, M.D.
Director, Division of Cancer Epidemiology & Genetics, NCI  and 
Montserrat García-Closas, M.D., Dr. P.H.
Deputy Director, Office of the Director, Division of Cancer Epidemiology & Genetics, NCI


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