Genetic Risk for Subsequent Neoplasm in Childhood Cancer Survivors

A study published in the Journal of Clinical Oncology observed a genetic risk of subsequent neoplasms in childhood cancer survivors and recommends genetic counseling referral for all survivors. 

Researchers assessed the contribution of pathogenic/likely pathogenic (P/LP) mutations in cancer predisposition genes to secondary neoplasm risk. They performed whole-genome sequencing on samples from 3,006 childhood cancer survivors who were ≥5 years since their initial cancer diagnosis and participants in the St Jude Lifetime Cohort Study, a retrospective hospital-based study with prospective clinical follow-up. 

Among this cohort, 1,120 secondary neoplasms were diagnosed in 439 survivors (14.6%), and 175 P/LP mutations were identified in 5.8% of survivors. Mutations were associated with significantly increased rates of breast cancer and sarcoma among irradiated survivors. Mutations were associated with increased rates of developing any secondary neoplasm, breast cancer, non-melanoma skin cancer, and two or more histologically distinct secondary neoplasms among non-irradiated survivors. 

Source: Journal of Clinical Oncology