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Principal Investigator
Mitchell Machiela
National Cancer Institute
Position Title
Stadtman Investigator
About this CDAS Project
PLCO (Learn more about this study)
Project ID
Initial CDAS Request Approval
Oct 8, 2020
Clonal mosaic chromosomal alterations and mortality in PLCO
With existing genotyping array data from available high-density arrays in PLCO, we can create virtual karyotypes for detecting acquired mosaic chromosomal alterations (mCAs). Evidence from other studies suggest the acquisition of mCAs may be associated with increased risk of mortality (Forsberg Nat Genet 2014, Loftfield Sci Rep 2018). As PLCO has excellent follow-up and mortality data, PLCO provides a timely opportunity to evaluate the impact of mCAs on mortality. Additionally, PLCO has ample data on potential lifestyle and co-morbidities that may impact mortality to use for statistical adjustment. Through the genotyping of all available PLCO participants with available DNA and genetic consent, we have existing data on mCA calls in PLCO. This request is a data-only request for mortality data as well as important mortality-related covariates for adjustment. We anticipate this analysis will aid in clarifying the relationship between mCAs and mortality.

-Our primary aim is to investigate the relationship between mCAs and all cause mortality.
-Sub-analyses will focus on major causes of mortality, with a focus on cancer mortality.
-Additional exploratory analyses will investigate differences of mCA type (gain, loss, neutral), cellular fraction, and chromosome impacted.


Shu-Hong Lin (NCI-DCEG)
Derek Brown (NCI-DCEG)
Weiyin Zhou (NCI-DCEG)
Neal Freedman (NCI-DCEG)
Wen-Yi Huang (NCI-DCEG)
Erikka Loftfiled (NCI-DCEG)