Flashcards in Li Fraumeni Deck (6)
What re the 3 criteria of Li Fraumeni Syndrome?
1. Proband with sarcoma diagnosed before 45
2. 1st degree relative with any cancer before 45
3. 1st or 2nd degree relative with any cancer under 45 or sarcoma at any age
What are the 3 criteria for Li-Fraumeni Like Syndrome?
1. Proband with any childhood cancer or sarcoma, brain tumor or adrenal cortical tumor before 45
2. 1st or 2nd degree relative with a typical LFS cancer (sarcoma, breast, brain tumor, adrenal cortical tumor or leukemia) at any age
3. 1st or 2nd degree relative with any cancer under the age of 60 yrs
What % of Li Fraumeni cancers have a p53 mutation?
70% (50% of all cancers)
WHat is the 2 hit Knudson model for carcinogenesis in the context of LFS?
germline p53 point mutation
carcinogenic event (i.e. amplification of HER2, lung cancer after radiation)
***hits can be on different genes***
What are the common ways that cancer related "hits" occur?
epigenetic silencing by methylation
insertion of retrovirus containing oncogene