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.