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Five V TP53 Cancer

Five germline variants in TP53 that cause early cancer manifestations.

Ronak Patel
Ronak Patel

Here are five notable TP53 variants that caused early development of various cancers, identified with the help of Adenine AI, a powerful tool for collecting evidence and insights tailored by age groups.

  • Adrenocortical Carcinoma – A 4-year-old boy presented with gynecomastia, a rare ACC symptom, linked to estrogen production from the tumor.
    Mutation: TP53:c.215C>G (p.Pro72Arg)
    PMID: 29403152

  • Choroid Plexus Carcinoma – Two sisters (one died a year prior to diagnosis at age 2) inherited a novel TP53 frameshift mutation from their father.
    Mutation: TP53:c.72dupA (p.Leu25ThrfsTer4)
    PMID: 36128143

  • Malignant Transformation – A low-grade brain tumor in an 8.5-year-old boy transformed into glioblastoma due to this TP53 variant.
    Mutation: TP53:p.Arg248Gln (germline origin not clear)
    PMID: 24768217

  • Li-Fraumeni Syndrome – A novel frameshift mutation was found in a 15-month-old girl with multiple family members affected by early-onset cancers.
    Mutation: TP53:c.892delGinsTTT (p.Glu298PhefsX48)
    PMID: 37508646

  • Primitive Neuroectodermal Tumor (codon 241 deletion) – A 9-year-old girl inherited a thymine deletion, leading to an aggressive brain tumor.
    Mutation: TP53:c.721del (p.Ser241fs)
    PMID: 9723024

These cases underscore the importance of early genetic testing in managing TP53-related cancers.

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