Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …

A pathology-supported genetic testing (PSGT) framework was established in South Africa to
improve access to precision medicine for patients with breast carcinomas. Nevertheless, the …

Li‐Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the
majority of patients with LFS have been identified with germline variants in the p53 tumor …

The wide application of new DNA sequencing technologies is generating vast quantities of
genetic variation data at unprecedented speed. Developing methodologies to decode the …

Mis-sense mutations affecting TP53 promote carcinogenesis both by inactivating tumor
suppression, and by conferring pro-carcinogenic activities. We report here that p53 DNA …

Correctly identifying the true driver mutations in a patient's tumor is a major challenge in
precision oncology. Most efforts address frequent mutations, leaving medium-and low …

TP53 variant interpretation is still challenging, especially in patients with attenuated Li–
Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic …

Multigene panel testing has led to an increase in the number of variants of uncertain
significance identified in the TP53 gene, associated with Li‐Fraumeni syndrome. We …

Li-Fraumeni syndrome, caused by germline pathogenic variants in TP53, results in
susceptibility to multiple cancers. Variants of uncertain significance (VUS) and …

The influence of BRCA1/2 variants of uncertain significance (VUSs) on the cancer risk and
their association with the response to treatment is uncertain. The aim of the present study …