Pathogenic germline TP53 variants in Swedish families. Homo sapiens

We identified ten novel germline variants in TP53 gene, including three missense, one nonsense, one single codon deletion, four frameshift and one intronic pathogenic variants, were not previously described as germline pathogenic variants. The nine exonic pathogenic variants were functionally characterized, which showed that all are expressed as proteins with the predicted sizes and demonstrated partial transactivation activity compared to wild-type p53.