Silvia Regina Caminada de Toledo

TL;DR: Two loci achieved genome-wide significance: a locus in the GRM4 gene at 6p21.3 (encoding glutamate receptor metabotropic 4; rs1906953) and a locu in the gene desert at 2p25.2 (rs7591996 and rs10208273) warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.

TL;DR: Among them, MELK correlated with malignancy grade in astrocytomas and represents a therapeutic target for the management of the most frequent brain tumors in adult and children.

TL;DR: A new missense point mutation in exon 8 of the RET gene (1597G-->T) corresponding to a Gly(533)Cys substitution in the cysteine-rich domain of RET protein is reported in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain.

TL;DR: About one-fourth of patients with osteosarcoma unselected for family history had a highly penetrant germline mutation requiring additional follow-up analysis and possible genetic counseling with cascade testing.

TL;DR: This is the first report on the THBS3 gene working as a stimulator of tumor progression, and all encode for proteins involved in extracellular remodeling suggesting potential roles in osteosarcoma progression.