Germline
Adult
Aged
Carcinoma, Neuroendocrine
/ complications
Female
Genetic Predisposition to Disease
Germ-Line Mutation
/ genetics
Humans
Male
Osteosarcoma
/ complications
Pediatrics
Proto-Oncogene Mas
Proto-Oncogene Proteins c-ret
/ genetics
Retinoblastoma Binding Proteins
/ genetics
Thyroid Neoplasms
/ complications
Tumor Suppressor Protein p53
/ genetics
Ubiquitin-Protein Ligases
/ genetics
calcium and bone
molecular genetics
paediatric oncology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
22
11
2019
revised:
12
02
2020
accepted:
14
02
2020
pubmed:
18
3
2020
medline:
11
9
2021
entrez:
18
3
2020
Statut:
ppublish
Résumé
Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone. We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenic After Li-Fraumeni-predisposing mutations in
Sections du résumé
BACKGROUND
Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.
METHODS AND RESULTS
We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenic
CONCLUSIONS
After Li-Fraumeni-predisposing mutations in
Identifiants
pubmed: 32179705
pii: jmedgenet-2019-106734
doi: 10.1136/jmedgenet-2019-106734
doi:
Substances chimiques
MAS1 protein, human
0
Proto-Oncogene Mas
0
RB1 protein, human
0
Retinoblastoma Binding Proteins
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
Ubiquitin-Protein Ligases
EC 2.3.2.27
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
RET protein, human
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
20-24Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.