Germline Genetic Testing of the TP53 Gene

Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer

This is a retrospective, observational, single-center study designed as a cohort analysis. The study population will include consecutive patients referred for genetic counseling and TP53 germline genetic testing between 2004 and 2025 at the Division of Cancer Prevention and Genetics of the IEO. The primary endpoint is to determine the overall detection rate of Pathological Variants (PVs) in the TP53 gene among individuals referred to the institute and the differences between the groups.

Inclusion Criteria:

• Have undergone at least one genetic counseling session at the Division of Cancer Prevention and Genetics of the IEO;
• Have undergone germline TP53 genetic testing, regardless of the referral criteria for counseling and/or testing or the approach used;
• Have provided written informed consent for participation in scientific research.

Exclusion Criteria:

• Absence of signed informed consent for participation in scientific research.