G2Cdb::Human Disease report

Disease id
D00000084
Name
Parathyroid adenoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002235 CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
Y (17284619) No mutation found (N) N

References

  • Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.

    Costa-Guda J and Arnold A

    Center for Molecular Medicine, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut 06030-3101, USA.

    Context: The molecular mechanisms underlying the pathogenesis of sporadic parathyroid adenomas are incompletely understood. Dysfunction of the Wnt signaling pathway is an established pathogenetic contributor to human tumorigenesis and, recently, the role of stabilizing mutations in beta-catenin, a cause of abnormal Wnt signaling, has been examined in parathyroid tumors with conflicting results.

    Objective: The objective of the present study was to determine the frequency of stabilizing mutations in exon 3 of CTNNB1, encoding beta-catenin, in a large series of parathyroid adenomas.

    Ninety-seven sporadic parathyroid adenomas were examined for mutations in exon 3 of CTNNB1 by direct DNA sequencing.

    Results: No mutations were identified in any of the adenomas.

    Conclusions: The absence of stabilizing mutations of beta-catenin, including the previously reported S37A, encoded in CTNNB1 exon 3 among 97 tumors suggests that such mutations contribute rarely if at all to the development of sporadic parathyroid adenomas. A primary role for abnormal Wnt signaling in parathyroid tumor formation remains to be established.

    Funded by: NIDCR NIH HHS: 5T32-DE07302

    The Journal of clinical endocrinology and metabolism 2007;92;4;1564-6

Literature (1)

Pubmed - human_disease

  • Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.

    Costa-Guda J and Arnold A

    Center for Molecular Medicine, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut 06030-3101, USA.

    Context: The molecular mechanisms underlying the pathogenesis of sporadic parathyroid adenomas are incompletely understood. Dysfunction of the Wnt signaling pathway is an established pathogenetic contributor to human tumorigenesis and, recently, the role of stabilizing mutations in beta-catenin, a cause of abnormal Wnt signaling, has been examined in parathyroid tumors with conflicting results.

    Objective: The objective of the present study was to determine the frequency of stabilizing mutations in exon 3 of CTNNB1, encoding beta-catenin, in a large series of parathyroid adenomas.

    Ninety-seven sporadic parathyroid adenomas were examined for mutations in exon 3 of CTNNB1 by direct DNA sequencing.

    Results: No mutations were identified in any of the adenomas.

    Conclusions: The absence of stabilizing mutations of beta-catenin, including the previously reported S37A, encoded in CTNNB1 exon 3 among 97 tumors suggests that such mutations contribute rarely if at all to the development of sporadic parathyroid adenomas. A primary role for abnormal Wnt signaling in parathyroid tumor formation remains to be established.

    Funded by: NIDCR NIH HHS: 5T32-DE07302

    The Journal of clinical endocrinology and metabolism 2007;92;4;1564-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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