A new study from the St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project suggests that 8.5 percent of children with cancer have a genetic predisposition.
The research project purports to represent the most comprehensive and detailed analysis yet of the role genes associated with cancer predisposition play in childhood cancer. It also suggests that comprehensive genomic screening may be in order on all pediatric cancer patients, not just those with cancer in their family history.
The study appears in the Nov. 19 edition of the New England Journal of Medicine.
“This paper marks an important turning point in our understanding of pediatric cancer risk and will likely change how patients are evaluated,” said corresponding author and St. Jude president and CEO Dr. James Downing.
He added that the frequency of 8.5 percent represents the current estimate of the number of young patients with a hereditary predisposition to cancer, a number that he thinks will likely grow as more is learned about gene mutations in young cancer patients.
“For many pediatric cancer patients,” he said, “comprehensive next-generation DNA sequencing of both their tumor and normal tissue may provide valuable information that will not only influence their clinical management but also lead to genetic counseling and testing of their parents and siblings who may be at risk and would benefit from ongoing surveillance.”
Along those lines, St. Jude has launched Genomes for Kids, a new clinical research study that incorporates next-generation sequencing into the medical workup of every eligible pediatric cancer patient who comes to the hospital for treatment.
Any child found to have a germline mutation in a cancer predisposition gene will be referred to the new St. Jude Hereditary Cancer Predisposition Clinic, which evaluates and cares for children with a higher genetic risk for cancer. The clinic is staffed by a team of doctors, nurses and genetic counselors who work with families to determine if a child’s cancer might be inherited.
As part of their work on the newly released study, researchers conducted next-generation DNA sequencing of both the tumor and normal tissues from 1,120 pediatric cancer patients. What they found: 8.5 percent of patients had pathogenic or likely pathogenic mutations of genes within their normal tissue that increase their risk of developing cancer.
Until now, the presence of such germline mutations in pediatric cancer patients was thought to be rare and restricted to children in families with strong histories of cancer. The study, though, found that more than half of the children with germline mutations lacked any family history of cancer.
One outcome of the study is that researchers believe systematic monitoring of patients and family members who have germline mutations in cancer predisposition genes will help detect cancers earlier, when they’re the most curable. Study co-author Dr. Kim Nichols, a member of the St. Jude Department of Oncology and director of the St. Jude Hereditary Cancer Predisposition Clinic, said the study “lays the groundwork” for understanding how best to monitor at-risk patients and families.
The research was funded in part by the Pediatric Cancer Genome Project, including Kay Jewelers, a lead sponsor; as well as a grant from the National Cancer Institute at the National Institutes of Health; and ALSAC, St. Jude’s fundraising arm.
By Andy Meek
Source: Memphis Daily News – http://www.memphisdailynews.com/news/2015/nov/19/st-jude-study-marks-turning-point/