Genetic and environmental risk factors for multiple primary cancers

Principal Investigator

Name
Sonja Berndt

Degrees
PhD, PharmD

Institution
National Cancer Institute

Position Title
Senior Investigator

Email
berndts@mail.nih.gov

About this CDAS Project

Study
PLCO (Learn more about this study)

Project ID
PLCO-1873

Initial CDAS Request Approval
Apr 2, 2025

Title
Genetic and environmental risk factors for multiple primary cancers

Summary
Approximately 14% of cancer survivors will go on to develop a second malignancy by 25 years of follow-up. Some established and suspected risk factors for multiple primaries include host-related factors (e.g., primary immune deficiency), medical and lifestyle factors (e.g., immunosuppression, chemotherapy), environmental exposures, and genetic factors (e.g., Lynch syndrome). However, many of the established factors, such as radiation and chemotherapy, only account for a small fraction of the risk. Other studies have demonstrated that Mendelian randomization, polygenic risk score, and transcriptome-wide association analyses can lead to insight into the etiology of cancer. Evaluations of genetic variants, HLA alleles, and other biomarkers derived from GWAS data may also provide further knowledge. This study aims to utilize the existing questionnaire and biomarker data (e.g., GWAS) within PLCO to identify and elucidate possible risk factors associated with multiple primary cancers.

Aims

1. Evaluate and identify genetic and lifestyle/environmental/medical risk factors for multiple primary cancers in the PLCO cohort
2. Evaluate the risk prediction and risk stratification using available data in PLCO

Collaborators

Wen-Yi Huang
Lydia He
Jessica Pepe