Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Japanese
SDHB
SDHD
VHL
genetics
germline variants
paraganglioma
pheochromocytoma
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
09 Aug 2021
09 Aug 2021
Historique:
received:
25
07
2021
revised:
02
08
2021
accepted:
04
08
2021
entrez:
27
8
2021
pubmed:
28
8
2021
medline:
28
8
2021
Statut:
epublish
Résumé
The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype-phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (
Identifiants
pubmed: 34439168
pii: cancers13164014
doi: 10.3390/cancers13164014
pmc: PMC8394264
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Japan Society for the Promotion of Science
ID : 201128060B
Organisme : Japan Society for the Promotion of Science
ID : 21591168
Organisme : Japan Society for the Promotion of Science
ID : 23591889
Organisme : Japan Society for the Promotion of Science
ID : 25460671
Organisme : Japan Society for the Promotion of Science
ID : 16K08961
Organisme : Japan Society for the Promotion of Science
ID : 17H04328
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