title: [CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].
abstract: The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion Torrent Personal Genome Machine (Thermo Fisher Scientific - Life Technologies, USA). It is the first description of CDC73 mutations in Russia, one of the mutations is described for the first time in the world. Identification of germline mutations in the CDC73 gene in patients with PHPT necessitates regular lifelong screening for other manifestations of hyperparathyroidism-jaw tumor syndrome (HPT-JT), PHPT recurrence due to parathyroid carcinoma as well, and identification of mutation carriers among first-degree relatives.
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: E O
authors: EO
authors: Mamedova
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: N G
authors: NG
authors: Mokrysheva
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: E A
authors: EA
authors: Pigarova
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: E G
authors: EG
authors: Przhiyalkovskaya
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: I A
authors: IA
authors: Voronkova
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: E V
authors: EV
authors: Vasilyev
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: V M
authors: VM
authors: Petrov
authors: N.N. Blokhin Russian Cancer Research Center, Moscow, Russia.
authors: V A
authors: VA
authors: Gorbunova
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: L Ya
authors: LY
authors: Rozhinskaya
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: Zh E
authors: ZE
authors: Belaya
authors: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors: A N
authors: AN
authors: Tyulpakov
mesh_terms: D000236:Adenoma / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000328:Adult; D000359:Aftercare / Q000379:methods; D001859:Bone Neoplasms / Q000097:blood / Q000473:pathology / Q000556:secondary / Q000628:therapy; D005260:Female; D005350:Fibroma / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D006961:Hyperparathyroidism / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000601:surgery; D049950:Hyperparathyroidism, Primary / Q000097:blood / Q000209:etiology / Q000473:pathology / Q000601:surgery; D007573:Jaw Neoplasms / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D010280:Parathyroid Glands / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000097:blood / Q000209:etiology / Q000473:pathology / Q000601:surgery; D016105:Parathyroidectomy / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C454900:CDC73 protein, human; D010281:Parathyroid Hormone; D025521:Tumor Suppressor Proteins