NOP53
genetic abnormalities
molecular testing
oncogenic mutations
thyroid cancer
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
07 11 2019
07 11 2019
Historique:
received:
04
09
2019
revised:
11
10
2019
accepted:
04
11
2019
entrez:
10
11
2019
pubmed:
11
11
2019
medline:
13
3
2020
Statut:
epublish
Résumé
Nonsyndromic familial non-medullary thyroid cancer (FNMTC) represents 3-9% of thyroid cancers, but the susceptibility gene(s) remain unknown. We designed this multicenter study to analyze families with nonsyndromic FNMTC and identify candidate susceptibility genes. We performed exome sequencing of DNA from four affected individuals from one kindred, with five cases of nonsyndromic FNMTC. Single Nucleotide Variants, and insertions and deletions that segregated with all the affected members, were analyzed by Sanger sequencing in 44 additional families with FNMTC (37 with two affected members, and seven with three or more affected members), as well as in an independent control group of 100 subjects. We identified the germline variant p. Asp31His in
Identifiants
pubmed: 31703244
pii: genes10110899
doi: 10.3390/genes10110899
pmc: PMC6896177
pii:
doi:
Substances chimiques
NOP53 protein, human
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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