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Article: Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

TitleNovel nonsense CDC73 mutations in Chinese patients with parathyroid tumors
Authors
KeywordsCDC73 mutations
Chinese
Hereditary hyperparathyroidism
Hyperparathyroidism- jaw tumor syndrome
Parathyroid carcinoma
Parathyroid tumor
Issue Date2011
PublisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=1389-9600
Citation
Familial Cancer, 2011, v. 10 n. 4, p. 695-699 How to Cite?
AbstractHyperparathyroidism-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-078 805.3: 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. © 2011 Springer Science+Business Media B.V.
Persistent Identifierhttp://hdl.handle.net/10722/145485
ISSN
2015 Impact Factor: 2.09
2015 SCImago Journal Rankings: 1.019
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorLaw, CYen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorWong, GWKen_HK
dc.contributor.authorHo, AYYen_HK
dc.contributor.authorHo, KYen_HK
dc.contributor.authorLoo, KTen_HK
dc.contributor.authorChiu, SCen_HK
dc.contributor.authorChow, LTCen_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorChan, AYWen_HK
dc.date.accessioned2012-02-23T12:11:29Z-
dc.date.available2012-02-23T12:11:29Z-
dc.date.issued2011en_HK
dc.identifier.citationFamilial Cancer, 2011, v. 10 n. 4, p. 695-699en_HK
dc.identifier.issn1389-9600en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145485-
dc.description.abstractHyperparathyroidism-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-078 805.3: 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. © 2011 Springer Science+Business Media B.V.en_HK
dc.languageengen_US
dc.publisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=1389-9600en_HK
dc.relation.ispartofFamilial Canceren_HK
dc.subjectCDC73 mutationsen_HK
dc.subjectChineseen_HK
dc.subjectHereditary hyperparathyroidismen_HK
dc.subjectHyperparathyroidism- jaw tumor syndromeen_HK
dc.subjectParathyroid carcinomaen_HK
dc.subjectParathyroid tumoren_HK
dc.titleNovel nonsense CDC73 mutations in Chinese patients with parathyroid tumorsen_HK
dc.typeArticleen_HK
dc.identifier.emailLaw, CY:ericlaw@pathology.hku.hken_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLaw, CY=rp01586en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s10689-011-9466-6en_HK
dc.identifier.pmid21732217-
dc.identifier.scopuseid_2-s2.0-84855658761en_HK
dc.identifier.hkuros201635-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84855658761&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume10en_HK
dc.identifier.issue4en_HK
dc.identifier.spage695en_HK
dc.identifier.epage699en_HK
dc.identifier.eissn1573-7292-
dc.identifier.isiWOS:000301507900011-
dc.publisher.placeNetherlandsen_HK
dc.identifier.citeulike9529029-

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