Attenuated Li–Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report

Key Points

• The case highlights the role of the tp53 mutation in li-fraumeni syndrome, particularly p.R181H.
• Genetic analysis uncovered the presence of a tp53 mutation in the patient with metastatic rectal adenocarcinoma.
• Clinical evaluation focused on the patient's specific cancer characteristics due to underlying genetic predisposition.
• Findings underscore the necessity for ongoing monitoring and possible genetic counseling for similar cases.