Yale Precision Medicine Tumor Board: reawakening the guardian of the genome.

Abstract

A 56-year-old man was diagnosed with a borderline resectable pancreatic adenocarcinoma and underwent neoadjuvant chemotherapy with fluorouracil, oxaliplatin, and irinotecan (modified FOLFIRINOX) followed by successful pancreaticoduodenectomy. He had a family cancer history of early-onset breast cancer in a maternal aunt and glioblastoma in his father and a paternal first cousin. Thus, his blood was analysed at a reference laboratory (Invitae, San Francisco, CA, USA) by an 83-gene hereditary cancer predisposition panel, which showed a heterozygous pathogenic variant associated with Li Fraumeni syndrome, TP53 Y220C.