Identifying the Risk of Breast Cancer in Childhood Cancer Survivors

Zhaoming Wang, PhD, bioinformatics scientist, Department of Computational Biology, St. Jude Children’s Research Hospital, discusses a study that is identifying the risk of breast cancer in survivors of childhood cancer.

Chest irritation in female pediatric patients with cancer is a major risk factor for breast cancer as survivors move into adulthood, explains Wang. Literature has also reported a risk of breast cancer for these patients after treatment with chemotherapy, but the genetic risk is not known.

In addition to whole-genome sequencing of rare, highly penetrant mutations in the predisposition genes, Wang says that investigators also looked at the genetic variants in these patients. This was done in an attempt to model risk of the commonly used demographic clinical variables and genetic factors, including rare mutations and common variants. From there, a polygenic risk score with 172 variants was built. Wang explains that each patient will receive a number to measure their risk of developing breast cancer in the general population.

The data used in this analysis was taken from the St. Jude Lifetime Cohort Study whole-genome sequencing data. Wang says it is the first time that this type of score was applied to survivors of childhood cancer.