Helping Families Using Pediatric Cancer Genetic Testing

The 21^st century has brought revolutionary developments in the science and technology that save lives every day. Specialists are using DNA sequencing technology to learn about our genetics and how some people are more likely than others to develop cancer. More specifically, they’re observing the benefits of genetic testing in children who have already been diagnosed with pediatric cancer.

About the Study

In a study recently published in the New England Journal of Medicine, researchers examined 1,120 pediatric patients who received cancer treatment from various hospitals.

The findings showed that roughly 8.5% of these patients exhibited genetic mutations in their ancestral DNA that caused a heightened risk of cancer, which could be passed to future generations.

Furthermore, more than half of these patients with mutations did not have a family history of hereditary cancer.

Unanticipated Results

Researchers found some insights that they didn’t expect going into the study. Of the 1,120 patients examined, 95 had inherited genetic mutations in 21 various genes. This rate was significantly higher than they expected.

Among the highest rates were in patients with pediatric retinoblastoma, neuroblastoma, bone tumors, and adrenal cortical tumors.

Many patients had BRCA1 and BRCA2 mutations, which are associated with heightened risk for cervical and breast cancers, but have not been linked to pediatric cancers previously. Whether or not these mutations are related to pediatric cancers is still unknown.

Benefitting Families, Not Just Patients

From these findings, scientists and researchers are learning to evolve the way they approach cancer diagnosis. Historically, pediatric cancer patients are not referred to genetic specialists unless their family history or cancer fits specific criteria.

However, research continues to suggest that medical professionals should rethink the status quo. It may be possible to look at the families of pediatric cancer patients to help determine if other family members are at risk too.