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Abstract
This dissertation explores the interplay between genetic and environmental factors in cancer susceptibility while addressing disparities in underserved populations. It comprises three chapters that shed light on different aspects of cancer research and intervention.Chapter 1 focuses on the impact of genetic variation on arsenic metabolism and toxicity susceptibility. Genome wide association analyses identified genetic variants associated with arsenic species in urine and blood samples, revealing insights into the complexity of arsenic metabolism and the genetic factors influencing toxicity risk.
Chapter 2 investigates the effects of returning personal genetic information on arsenic toxicity susceptibility in rural Bangladesh. Participants categorized using Polygenic Risk Scores receive information on arsenic effects and exposure reduction strategies. While the intervention increases self-reported behaviors aimed at reducing exposure, it does not significantly reduce urine arsenic levels beyond the impact of an educational intervention alone. This study contributes to our understanding of genetic factors impacting arsenic metabolism and provides valuable insights into returning genetic results in resource-limited settings.
Chapter 3 shifts the focus to breast cancer, the most common cancer among women in the United States and a leading cause of cancer death among Hispanics/Latinas (H/L). It highlights the lower likelihood of early-stage diagnosis in H/L women compared to Non-Hispanic/Latina White (NHW) women and the disparity in genetic testing uptake for inherited breast cancer mutations. To address this gap, the "Tu Historia Cuenta" program was developed, targeting monolingual Spanish-speaking individuals in California. This program raises awareness about hereditary breast cancer, provides educational resources, and facilitates access to genetic counseling and testing services.
By addressing diverse aspects of cancer research and intervention, this dissertation enhances our understanding of the genetic and environmental determinants of cancer susceptibility, highlights disparities in underserved populations, and offers insights into novel interventions to reduce cancer risk. It emphasizes the importance of tailored approaches that consider the unique needs and circumstances of diverse populations, ultimately striving for equitable and effective cancer prevention and care.