Homo sapiens Genome sequencing and assembly. Homo sapiens

Variation in the TP53 gene may cause Li-Fraumeni syndrome (LFS) or Li-Fraumeni-like (LFL) syndrome, presenting as rare hereditary disorders characterized by a high risk for developing a wide spectrum of early-onset cancers. We submit germ-line evidence of a TP53 variant identified in an index patient diagnosed with three primary invasive breast carcinomas, which was also identified in other family members. This variant has only been reported twice (in hepatocellular carcinoma and endometrial cancer) in the TP53 online database (https://p53.fr/tp53-database), while it is absent in population databases including gnomAD (https://gnomad.broadinstitute.org/). Our results show that this rare TP53 variant remains to be the most likely cause of recurrent breast cancer, as supported by the strength of cumulative evidence.