caa a22 4500 445331135 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10689-011-9466-6 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9466-6 Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors [Elektronische Daten] [Wai Siu, Chun Law, Ching Lam, Chloe Mak, Gary Wong, Andrew Ho, Kwok Ho, Ka Loo, Sin Chiu, Louis Chow, Sui Tong, Albert Chan] 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. Springer Science+Business Media B.V., 2011 CDC73 mutations nationallicence Chinese nationallicence Hereditary hyperparathyroidism nationallicence Hyperparathyroidism-jaw tumor syndrome nationallicence Parathyroid tumor nationallicence Parathyroid carcinoma nationallicence Siu Wai Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut Law Chun Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut Lam Ching Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China aut Mak Chloe Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut Wong Gary Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China aut Ho Andrew Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, China aut Ho Kwok Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, China aut Loo Ka Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China aut Chiu Sin Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China aut Chow Louis Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Hong Kong, China aut Tong Sui Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China aut Chan Albert Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut Familial Cancer Springer Netherlands 10/4(2011-12-01), 695-699 1389-9600 10:4<695 2011 10 10689 https://doi.org/10.1007/s10689-011-9466-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9466-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Siu Wai Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Law Chun Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Lam Ching Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China aut NATIONALLICENCE 700 1- Mak Chloe Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Wong Gary Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China aut NATIONALLICENCE 700 1- Ho Andrew Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Ho Kwok Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Loo Ka Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Chiu Sin Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Chow Louis Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Hong Kong, China aut NATIONALLICENCE 700 1- Tong Sui Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China aut NATIONALLICENCE 700 1- Chan Albert Department of Pathology, Princess Margaret Hospital, Hong Kong, China aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/4(2011-12-01), 695-699 1389-9600 10:4<695 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer