t(12;15)(p13;q25)

Preferred Label : t(12;15)(p13;q25);

NCIt synonyms : t 12 15 p13 q26;

NCIt definition : A chromosomal translocation involving breakpoints within the p13 band on the short arm of chromosome 12 and the q25 band on the long arm of chromosome 15. This rearrangement is associated with ETV6-NTRK3 fusion gene expression and congenital fibrosarcoma, congenital mesoblastic nephroma (cellular and mixed variants), and secretory ductal carcinoma of breast.;

Détails

Origin ID

C36387;

UMLS CUI

C4053818;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 12 [NCIt concept]
- Human Chromosome 15 [NCIt concept]
is_abnormality_of_gene
- ETV6/NTRK3 Fusion Gene [NCIt concept]
is_cytogenetic_abnormality_of_disease
- Lung Secretory Carcinoma [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Adnexal Secretory Carcinoma [NCIt concept]
- Lacrimal Gland Secretory Carcinoma [NCIt concept]
- Metastatic Salivary Gland Secretory Carcinoma [NCIt concept]
- Salivary Gland Secretory Carcinoma [NCIt concept]
molecular_abnormality_involves_gene
- ETS Family Gene [NCIt concept]
- ETV6 Gene [NCIt concept]
- ETV6/NTRK3 Fusion Gene [NCIt concept]
- NTRK Family Gene [NCIt concept]
- NTRK3 Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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