The mutations that cause Li-Fraumeni syndrome occur on the TP53 gene and CHEK2, which are both tumor suppressor genes. The average chance of a Li-Fraumeni syndrome patient to develop any form of ...
The most commonly identified germline pathogenic mutations were CHEK2, ATM/BRCA2 and MITF in the clear cell RCC group, and FH and CHEK2 in the non-clear cell RCC group. Compared to the non cancer ...