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Principal Investigator
Name
Ludmila Prokunina-Olsson
Degrees
Ph.D.
Institution
NCI
Position Title
Chief, Senior Investigator
Email
About this CDAS Project
Study
PLCO (Learn more about this study)
Project ID
PLCO-629
Initial CDAS Request Approval
Jun 1, 2020
Title
GSTM1-deletion in relation to cancer risk
Summary
The deletion of the glutathione S-transferase mu1 (GSTM1) gene on chromosome 1p13.3 is a common germline polymorphism (up to 75% in some human populations). The homozygous loss of GSTM1 (GSTM1-null) has been associated with multiple disorders, including cancers. GSTM1 conjugates and facilitates the elimination of reactive metabolites, counteracting the formation of DNA adducts and reactive oxygen species (ROS) that increase cancer risk. Despite the complex genomic structure of the GSTM cluster that complicates discovery and large-scale studies, we developed a custom TaqMan assay and reference panels for genotyping and imputing the GSTM1-deletion respectively. In this study we aimed to explore the role of GSTM1-deletion in relation to cancer risk.

The data is requested for PLCO samples with available genotype data – DUPS request #28 “GSTM1 in cancer”. Genotype data has already been delivered and is ready for analysis.
Aims

Perform imputation and association analysis for multiple cancers for the GSTM1-deletion. A case-control genetic association analysis will be used to explore the association between GSTM1-deletion and each cancer type.

Collaborators

1. Oscar Florez-Vargas, Laboratory of Translational Genomics, DCEG, NCI.
2. Wusheng Yan, Laboratory of Translational Genomics, DCEG, NCI.
3. Kristine Jones, Cancer Genomics Research Laboratory, DCEG, NCI.
4. Alfred Li, Cancer Genomics Research Laboratory, DCEG, NCI.
5. Jia Liu, Cancer Genomics Research Laboratory, DCEG, NCI.
6. Bin Zhu, Cancer Genomics Research Laboratory, DCEG, NCI.
7. Montserrat Garcia-Closas, OD, DCEG, NCI.
8. Stephen Chanock, OD, DCEG, NCI.
9. Debra Silverman, Occupational and Environmental Epidemiology Branch, DCEG, NCI.
10. Stella Koutros, Occupational and Environmental Epidemiology Branch, DCEG, NCI.
11. Nathaniel Rothman, Occupational and Environmental Epidemiology Branch, DCEG, NCI.