Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome usually associated with TP53 germline alterations. Its genetic basis in TP53 wild-type pedigrees is less understood. Using whole gen
Genomic DNA (~ 1 μg) from LFS patients was treated using sodium bisulfite (Qiagen) converting unmethylated cytosine to uracil but leaving methylated cytosine intact. These samples were then hy
We presented a LFS case in TP53 mutation in two siblings aim to remind pediatricians that it is important to be vigilant for the presence of LFS when such tumorigenesis occurs.