Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
Chordoma
Genetic counseling
Germline
Hereditary
Predisposition
Journal
Journal of cancer research and clinical oncology
ISSN: 1432-1335
Titre abrégé: J Cancer Res Clin Oncol
Pays: Germany
ID NLM: 7902060
Informations de publication
Date de publication:
03 May 2024
03 May 2024
Historique:
received:
23
02
2024
accepted:
15
03
2024
medline:
3
5
2024
pubmed:
3
5
2024
entrez:
3
5
2024
Statut:
epublish
Résumé
Chordoma is a rare slow-growing tumor that occurs along the length of the spinal axis and arises from primitive notochordal remnants (Stepanek et al., Am J Med Genet 75:335-336, 1998). Most chordomas are sporadic, but a small percentage of cases are due to hereditary cancer syndromes (HCS) such as tuberous sclerosis 1 and 2 (TSC1/2), or constitutional variants in the gene encoding brachyury T (TBXT) (Pillay et al., Nat Genet 44:1185-1187, 2012; Yang et al., Nat Genet 41:1176-1178, 2009). The genetic susceptibility of these tumors is not well understood; there are only a small number of studies that have performed germline genetic testing in this population. We performed germline genetic in chordoma patients using genomic DNA extracted by blood or saliva. We report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors.
Identifiants
pubmed: 38700789
doi: 10.1007/s00432-024-05706-5
pii: 10.1007/s00432-024-05706-5
doi:
Substances chimiques
Brachyury protein
EQ43SC3GDB
Fetal Proteins
0
T-Box Domain Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
227Informations de copyright
© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.
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