Li Fraumeni syndrome 2 (CHK2 mutation associated)

Genetics

• highly penetrant familial cancer phenotype
• usually associated with inherited mutations in p53/TP53
• also associated with defects in CHEK2

More general terms

• Li-Fraumeni syndrome

Database

• OMIM: https://mirror.omim.org/entry/604373
• OMIM: https://mirror.omim.org/entry/609265