Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

• Main Authors: Bo-Young Kim (Author), Mi-Hyun Park (Author), Hae-Mi Woo (Author), Hye-Yeong Jo (Author), Ji Hoon Kim (Author), Hyung Jin Choi (Author), Soo Kyung Koo (Author)
• Format: Book
• Published: BMC, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be...