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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • LFS1
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
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Your Questions Answered

2 question(s) from the public on this disease have been answered. Submit a new question.
  • How does this syndrome begin in a lineage? Is the TP53 gene mutation a sudden and spontaneous mutation at conception? Does it have environmental causes? Is it a gradual generational erosion of gene integrity finally resulting in the full mutation that causes this syndrome? Are some TP53 genes mutated worse than others? We are trying to trace this through our family tree. Click here for answer

  • If my father had a TP53 mutation, does that mean all his children have the mutation or each has a 50% chance of having it?  If my father had the mutation and I do not have it, do my own children have a chance of having it or are they and all successive generations in the clear?  If my family clearly meets the criteria for diagnosing this condition, but no one demonstrates the TP53 mutation in genetic testing, is it possible to determine if a given relative never diagnosed with cancer has the predisposition? Click here for answer