ABSTRACT

The succinate dehydrogenase (SDH) enzyme complex localises to the inner side of the mitochondrial membrane and participate both in the tricarboxylic acid cycle and oxidative phosphorylation. SDHB is one of the four subunits of SDH and germline mutations in the gene encoding the SDHB have an important role in the development of familial pheochromocytoma and paraganglioma (PCC/PGL). In this report, we describe a novel germline SDHB c.676_677del mutation in a family responsible for breast cancer, thyroid cancer and bladder cancer without the presence of the main feature, PCC/PGL. The use of whole exome sequencing helped us clarify the genetic cause of this family presenting with non-classic manifestations.