Inherited mutation can drive SHH medulloblastoma

Memphis, Tennessee, April 1, 2020

Researcher explains findings to four other researchers sitting at a table.

From left to right: Co-first author Giles Robinson, MD; senior co-author Paul Northcott, PhD; co-author Kim Nichols, MD; co-author Brian Gudenas, PhD; and co-author Kyle Smith, PhD.

St. Jude and others studied how gene mutations passed down through families help cause a type of childhood brain tumor. The team found that inherited mutations in the gene ELP1 can make kids more apt to have the SHH subgroup of the disease.

Medulloblastoma is among the most common cancerous childhood brain tumors. Inherited mutations were known to play a role in the SHH subgroup. But the known mutations did not explain all cases.

“The scientific evidence and the experiences of patients and families told us that inherited mutations may play a bigger role than previously thought,” said Paul Northcott, PhD, of St. Jude Developmental Neurobiology.

The team looked at all protein-coding genes in more than 1,000 children with the disease. They compared that to more than 118,000 people without cancer.

Results showed that ELP1 is mutated in 14–15% of children with the SHH subgroup.

ELP1 is not included in routine genetic testing. This work supports including ELP1 in testing for patients with SHH medulloblastoma.

Nature published a report on this work.

Read the full News Release. 

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