Article
Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer.
Human mutation - 1 Mar 2018
Sponziello Marialuisa, Benvenuti Silvia, Gentile Alessandra, Pecce Valeria, Rosignolo Francesca, Virzì Anna Rita, Milan Melissa, Comoglio Paolo M, Londin Eric, Fortina Paolo, Barnabei Agnese, Appetecchia Marialuisa, Marandino Ferdinando, Russo Diego, Filetti Sebastiano, Durante Cosimo, Verrienti Antonella
Abstract excerpt
Whole exome sequencing (WES) was used to investigate two Italian siblings with wild-type RET genotype, who developed medullary thyroid cancers (MTCs) and, later, primary prostate and breast cancers, respectively. The proband's MTC harbored a p.Met918Thr RET mutation; his sister's MTC was RET/RAS wild-type. Both siblings had a germline mutation (p.Arg417Gln) in the extracellular Sema domain of the proto-oncogene...
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