Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic
Cancer genetics
Genetics research
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2020
2020
Historique:
received:
31
01
2020
accepted:
19
08
2020
entrez:
7
10
2020
pubmed:
8
10
2020
medline:
8
10
2020
Statut:
epublish
Résumé
Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as a result of defective electrolyte co-transport at the level of the distal convoluted tubule of the kidney. Here, we present the first report of a patient with Gitelman syndrome who developed multiple neoplasia including colorectal polyposis, synchronous colorectal cancers, recurrent breast fibroadenomata and a desmoid tumor. Whole-exome sequencing confirmed germline compound heterozygous mutations of c.179C > T and c.1326C > G in
Identifiants
pubmed: 33024574
doi: 10.1038/s41525-020-00146-9
pii: 10.1038/s41525-020-00146-9
pmc: PMC7501863
doi:
Types de publication
Journal Article
Langues
eng
Pagination
39Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing interests.
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