A 32-year-old woman is diagnosed with an adrenocortical carcinoma. Family history reveals her brother had osteosarcoma at age 15 and her father died of early-onset breast cancer. Germline testing would most likely reveal a mutation in which gene?
- A APC
- B BRCA1
- C TP53 ✓
- D RET
Correct answer: C. TP53
Explanation
This is Li-Fraumeni syndrome, caused by germline TP53 mutation, characterized by diverse early-onset malignancies including sarcomas, breast cancer, adrenocortical carcinoma, brain tumors, and leukemia. APC causes familial adenomatous polyposis with colorectal predominance, BRCA1 predisposes mainly to breast and ovarian cancer, and RET causes MEN2 with medullary thyroid carcinoma and pheochromocytoma, none matching this pattern.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.