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 Of the children with cancer risk genes, only 40 percent came from
families with a known history of cancer, suggesting that family
history was not a strong predictor of childhood cancers, the
researchers reported in 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,” Dr. James Downing of St. Jude Children’s Research
Hospital in Memphis, Tennessee, who worked on the study, said in a
statement.
Downing and colleagues said the findings make the case for
comprehensive genetic sequencing of pediatric cancer patients,
looking at both healthy tissue and tumor tissue.
Such data could be used to manage a child's care, and also to
counsel other family members, including siblings, who may be at
risk.
In an editorial published in the same journal, Dr. John Maris of the
Children's Hospital of Philadelphia said the study "provides firm
ground on which to reconsider how to approach the pediatric patient
with cancer."
In the study, researchers sequenced both tumor and normal tissues
from 1,120 children with cancer and found that 8.5 percent had
cancer risk genes within their normal tissue that increased their
risk of developing cancer.
By comparison, only about 1 percent of individuals in the general
population carried those mutations.
"Insurance companies often initially refuse to pay for this kind of
genetic testing. However, this paper shows the importance of genetic
testing in childhood cancer," said Dr. Jaime Vengoechea, a
geneticist at Emory University who was not involved with the
research.
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Richard Wilson of Washington University School of Medicine in St.
Louis, who contributed to the study, said experts have long
suspected that many childhood cancers could be traced to a genetic
predisposition, and now the findings confirm it.
"Our results explain why children, who have not lived long enough to
accumulate a critical number of cancer-causing mutations, can still
develop cancer,” he said.
Dr. David Bailey, chief executive officer of Nemours Children’s
Health System, who was not involved with the study, called it "a
seminal paper that raises the awareness of folks outside the
oncology world about the need for testing."
(Reporting by Julie Steenhuysen; Editing by Toni Reinhold)
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