WFRF:(Carling Tobias)
Search: WFRF:(Carling Tobias) > (2010-2014) > Frequent germ-line ...
- 1 of 12
- Previous record
- Next record
- To hitlist
- Starker, Lee F.Uppsala universitet,Experimentell kirurgi (author)
Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism
- Article/chapterEnglish2012
Publisher, publication year, extent ...
- 2011-12-21
- Springer Science and Business Media LLC,2012
- printrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:uu-205584
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-205584URI
- https://doi.org/10.1007/s12672-011-0100-8DOI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- Familial primary hyperparathyroidism (FPHPT) may occur due to an underlying germ-line mutation in the MEN1, CASR, or HRPT2/CDC73 genes. The disease may be undiagnosed in the absence of a history suggestive of FHPT. Young PHPT patients (≤45 years of age) are more likely to harbor occult FPHPT. A total of 1,161 (136 were ≤45 years of age) PHPT patients underwent parathyroidectomy from 2001 to 2009. Thirty-four patients declined participation. Sixteen patients were diagnosed in the clinical routine with FPHPT (11 MEN1, four MEN2A, and one HPT-JT) and were not included in the genetic analysis. Eighty-six young (≤45 years of age) patients with clinically non-syndromic PHPT underwent genetic analysis. Sanger sequencing of all coding regions of the MEN1, CASR, and the HRPT2/CDC73 genes was performed. Eight of 86 (9.3%) young patients with clinically non-familial PHPT displayed deleterious germ-line mutations in the susceptibility genes (4 MEN1, 3 CASR, and 1 HRPT2/CDC73). There was one insertion, one deletion, two nonsense, and four missense mutations, all predicted to be highly damaging to protein function and absent in 3,244 control chromosomes. Germ-line mutations in known susceptibility genes within young patients with PHPT, including those diagnosed in the clinical routine, was 24/102 (23.5%; 15 MEN1, four RET, three CASR, and two HRPT2/CDC73). We demonstrate that germ-line inactivating mutations in susceptibility genes are common in young patients with clinically non-familial PHPT. Thus, enhanced use of genetic analysis may be warranted in clinically non-familial young PHPT patients.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
- Åkerström, TobiasUppsala universitet,Experimentell kirurgi(Swepub:uu)tobak884 (author)
- Long, William D (author)
- Delgado-Verdugo, AlbertoUppsala universitet,Experimentell kirurgi(Swepub:uu)aldel839 (author)
- Donovan, Patricia (author)
- Udelsman, Robert (author)
- Lifton, Richard P (author)
- Carling, Tobias (author)
- Uppsala universitetExperimentell kirurgi (creator_code:org_t)
Related titles
- In:Hormones & Cancer: Springer Science and Business Media LLC3:1-2, s. 44-511868-84971868-8500
Internet link
Find in a library
- Hormones & Cancer (Search for host publication in LIBRIS)
To the university's database
- 1 of 12
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Starker, Lee F.
- Åkerström, Tobia ...
- Long, William D
- Delgado-Verdugo, ...
- Donovan, Patrici ...
- Udelsman, Robert
- show more...
- Lifton, Richard ...
- Carling, Tobias
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Articles in the publication
- Hormones & Cance ...
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
