Fig. 2.

Pedigree#1 and #2 emphasize individuals with a pathogenic TP53 germline mutation that lack classic personal or family history of LFS-related cancers and do not fulfill TP53 testing criteria. Pedigree #1: Pedigree #1 displays a likely deleterious de novo TP53 variant (NM_000546.5:c.375G > A (p.Thr125Thr)). The individual presented with a bilateral breast cancer disease at the age of 39 years. Pedigree #2: In pedigree #2 a likely deleterious TP53 mutation (NM_000546.5:c.542G > A (p.Arg181His),) was detected, which was associated with the late manifestation of cancer disease. The index patient was diagnosed with breast cancer disease at the age of 46 years and her mother at the age of 41 years respectively