Scientists track rare gene mutation to unlock cancer clues
NCT ID NCT01247597
First seen Nov 01, 2025 · Last updated Jun 20, 2026 · Updated 32 times
Summary
This study follows people with a rare inherited gene change (DICER1) that raises the risk of certain childhood cancers like pleuropulmonary blastoma. Researchers will collect medical histories, genetic samples, and tumor tissue from 1,500 participants and their close relatives over many years. No treatment is given; the goal is to better understand the condition and create guidelines for cancer prevention and early detection.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Cancer Institute - Shady Grove
RECRUITINGRockville, Maryland, 20850, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-••••
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could lead to better screening and prevention guidelines for families with DICER1 mutations, potentially catching cancers earlier.
What could go wrong
This is an observational study, not a treatment trial. It may take many years to gather enough data to change medical practice, and findings may not apply to everyone.
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.