Investigating the etiology of genomic rearrangements in human cancers
Email Principal Investigator
Xiaotu Ma
CBTN Data
Backer
Institutional Start Up Fund
About this
Project
A given species, such as human, is defined by the genetic material known as DNA. Human DNA is composed of 24 distinct large molecules, known as chromosomes. It has been well known that DNA is abnormal in human cancer cells, and such abnormalities are commonly known as mutations. One type of mutation known as rearrangements, where different chromosomes are joined to form a novel chromosome, has been shown to drive many human cancers (e.g., the well-known Philadelphia chromosome). It remains poorly understood how these rearrangements happened.
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Scientists
What are the goals of this project?
Here we aim to study the etiology of rearrangements by carefully analyzing the break points in large number of tumors, including pediatric leukemia, pediatric brain tumors, and pediatric solid tumors, with the aim to find common molecular patterns. The large cohort of genome and transcriptome sequencing data (such as CBTN Controlled data) provides us unique opportunity to precisely define the rearrangements for our research objective.
What is the impact of this project?
Etiology of cancer has been extensively studied as “mutational signature” for substitutions (such as our recent work on relapsed pediatric ALL: https://ashpublications.org/blood/article/135/1/41/422540/Therapy-induced-mutations-drive-the-genomic). However, knowledge of etiology on rearrangements are still lacking. We expect this study to complete this knowledge gap for a large panel of pediatric cancers.
Project
Results
Knowledge gained from this study will be disseminated through scientific presentations in scientific conferences and/or journal publications/abstracts.
Explore the data in these informatics portals
Meet The
Team
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