Childhood malignancies are rarely related to known environmental exposures, and it has
become increasingly evident that inherited genetic factors play a substantial causal role …

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks
for a diverse spectrum of childhood-and adult-onset malignancies. The lifetime risk of cancer …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …

Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterised by
otosinopulmonary infections. Inheritance is commonly autosomal recessive, with extensive …

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

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 …

Genetic diversity of germline variants in breast cancer (BC) predisposition genes is
unexplored in miscegenated populations, such those living in Latin America. We evaluated …

Pancreatic cancer is one of the deadliest malignancies. Therefore, there is an urgent need to
detect pancreatic cancer in an earlier stage to improve outcomes. A variety of hereditary …

The p53 protein is a transcription factor that prevents tumors from developing. In
spontaneous and inherited cancers there are many different missense mutations in the DNA …