Research Fellow, University of California, Irvine
1 active project
Prevalence of Germline Mutations for Cancer
Scientific Questions Being Studied
Certain germline mutations with known predisposition for cancer are more commonly found in certain races/ethnicities (ie: CHD1 mutation in Hispanic patients with gastric cancer). These patients can have earlier and more aggressive disease. However, we do not know the overall prevalence of these germline mutations among different racial/ethnic groups, including those that are healthy. Using the All of Us genomic data, we aim to investigate the overall prevalence of various germline mutations and determine differences that may exist between different racial/ethnic groups to identify high risk populations.
To answer our question, we will query the genomic data from the controlled tier database. We will determine the prevalence of different germline mutations with known predisposition for various cancers among all participants in different race/ethnicity groups. We will also compare prevalences for these germline mutations between participants of different races/ethnicities, and between healthy participants to patients with cancer.
We anticipate different germline mutations may be more prevalent in certain groups of people based on race/ethnicity. With this information, we can focus screening efforts on higher risk patients to improve prevention and treatment of cancers.
Demographic Categories of Interest
- Race / Ethnicity
Data Set UsedControlled Tier
- Jingjing Yu - Research Fellow, University of California, Irvine
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