Luigi Mori

TL;DR: The frequency of the hereditary forms of pheochromocytoma/paraganglioma varies depending on the family history and the clinical presentation, and which genes should be screened first is suggested.

TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.

TL;DR: Germline mutations of FP/ TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms, and disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein.

TL;DR: Analysis of gene‐targeted mice and patients with severe combined immunodeficiency due to mutations of the α chain of the interleukin‐7 receptor (IL‐7Rα) has shown important differences between mice and humans in the role played by IL‐7 in lymphoid development.

TL;DR: The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes, and the need for gene‐specific calibration of evidence types used for variant classification is justified.