title: Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.
abstract: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease characterized by the occurrences of parathyroid tumors and ossifying fibroma of maxilla/mandible. It is caused by mutations in CDC73 gene and mutation carriers are at increased risk of parathyroid carcinoma. Hyperparathyroidism could be the sole manifestation. We reported two Chinese patients having parathyroid neoplasm with equivocal malignant potential and parathyroid carcinoma respectively with both germline and somatic CDC73 mutations detected. Both of them presented with severe hypercalcemia and primary hyperparathyroidism with no other HPT-JT associated tumors and negative family history. We identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X. The other germline mutation CDC73 NM_024529.4: c.226C > T; NP_078805.3: p.Arg76X and somatic mutation CDC73 NM_024529.4: c.85delG; NP_078805.3: p.Glu29SerfsX8 were previously reported. This is the first report of CDC73 mutations in the Chinese population. Genetic analysis is reliable to confirm the underlying hereditary basis of hyperparathyroidism. By identification of mutations, the patient and the family members could benefit from regular surveillance for early detection of tumors.
authors: Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
authors: Wai Kwan
authors: WK
authors: Siu
authors: Chun Yiu
authors: CY
authors: Law
authors: Ching Wan
authors: CW
authors: Lam
authors: Chloe Miu
authors: CM
authors: Mak
authors: Gary Wing Kin
authors: GW
authors: Wong
authors: Andrew Yiu Yan
authors: AY
authors: Ho
authors: Kwok Yip
authors: KY
authors: Ho
authors: Ka Tai
authors: KT
authors: Loo
authors: Sin Chuen
authors: SC
authors: Chiu
authors: Louis Tsun Cheung
authors: LT
authors: Chow
authors: Sui Fan
authors: SF
authors: Tong
authors: Albert Yan Wo
authors: AY
authors: Chan
mesh_terms: D000293:Adolescent; D002681:China; D018389:Codon, Nonsense; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D010282:Parathyroid Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C454900:CDC73 protein, human; D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins