Luciana Audi Castroneves, Flavia Regina Rotea Mangone, Antonio Marcondes Lerario, Ana Maria da Cunha Mercante, Rafael Loch Batista, Luciana Rodrigues Carvalho Barros, Carla Vaz Ferreira, Evelin Cavalcante Farias, Felipe Augusto Brasileiro Vanderlei, Ana Luiza Maia, Maria Aparecida Nagai, Alexander Augusto Lima Jorge, Ana Oliveira Hoff
CONTEXT: Genetic analysis of sporadic medullary thyroid carcinoma (MTC) has revealed somatic variants in RET , RAS , and occasionally other genes. However, around 20% of patients with sporadic MTC lack a known genetic driver. OBJECTIVE: To uncover potential new somatic or germline drivers, we analyze a distinct cohort of patients with sporadic, very early-onset, and aggressive MTC. METHODS: Germline and somatic DNA exome sequencing was performed in 19 patients, previously tested negative for germline RET variants...
April 6, 2024: Journal of the Endocrine Society