Genetic Studies
Primary Goals
Tumor-based Studies
- Study the molecular patterns of BL tumors to better define subtypes for epidemiologic studies;
- Study the sequence of the B-cell receptor (BCR) to gain insights into the nature of pre-clinical BL clones.
Germline Studies
- Investigate the genetic susceptibility of eBL using GWAS and exomes sequencing methods;
- Characterize genetic structure of populations in the eBL belt;
- Investigate the association between BL and human leukocyte antigen (HLA) class I and II loci.
The genetic studies utilize a variety of tools to answer specific questions that cannot be answered well using questionnaire or serological methods. These studies take advantage of high-throughput scanning for genome-wide association studies (GWAS) and whole or exome sequencing of tumor and germline genomes to study deeper aspects of endemic Burkitt Lymphoma (eBL) biology.
These studies are complex and involve collaboration with scientists from diverse disciplines. They provide exciting opportunities to bridge genetic, epigenetic, viral, immunological, and epidemiologic approaches to investigate the etiology of BL.
These studies fall into two broad categories:
- tumor-based studies, and
- germline studies.
Publications
Tumor-based Studies
- Genetic Subgroups Inform on Pathobiology in Adult and Pediatric Burkitt Lymphoma
- Genome-wide discovery of somatic coding and non-coding mutations in pediatric endemic and sporadic Burkitt lymphoma.
- High-throughput sequencing of the B-cell receptor in African Burkitt lymphoma reveals clues to pathogenesis.
- Epstein-Barr virus patterns in US Burkitt lymphoma tumors from the SEER residual tissue repository during 1979-2009.
- Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics.
Germline Studies
- Human leukocyte antigen-DQA1*04:01 and rs2040406 variants are associated with elevated risk of childhood Burkitt lymphoma
- Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa
- Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa
- IFNL4 Genotypes and Risk of Childhood Burkitt Lymphoma in East Africa
- Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility.
- Variation in the Human Leukocyte Antigen system and risk for endemic Burkitt lymphoma in northern Uganda.
- Origins, admixture dynamics and homogenization of the African gene pool in the Americas.
- Genetic signatures of gene flow and malaria-driven natural selection in sub-Saharan populations of the "endemic Burkitt Lymphoma belt".
- Evaluating the Causal Link Between Malaria Infection and Endemic Burkitt Lymphoma in Northern Uganda: A Mendelian Randomization Study.