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Journal article

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

Abstract:

Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell clusters of normal adrenal gland suggests a requirement for codriver mutations in APAs. Here we identified gain-of-function mutations in both CTNNB1 and GNA11 by whole-exome sequencing of 3/41 APAs. Further sequencing of known CTNNB1-mutant APAs led to a total of 16 of 27 (59%) with a somatic p.Gln209His, p.Gln209Pro or p.Gl...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41588-021-00906-y

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Publisher:
Springer Nature
Journal:
Nature Genetics More from this journal
Volume:
53
Issue:
9
Pages:
1360–1372
Publication date:
2021-08-12
Acceptance date:
2021-06-29
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Language:
English
Keywords:
Pubs id:
1184513
Local pid:
pubs:1184513
Deposit date:
2021-07-01

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