Terminology Service for NFDI4Health
BRCA2 Biallelic Inactivation
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http://purl.obolibrary.org/obo/NCIT_C142122
The presence of mutations in both alleles of the BRCA2 gene that either lead to loss of expression of the BRCA2 protein or result in the translation of an inactive BRCA2 protein. [ ]
Term info
Label
BRCA2 Biallelic Inactivation
Synonyms
- BRCA2 Biallelic Gene Inactivation
- BRCA2 Biallelic Inactivation
- BRCC2 Biallelic Gene Inactivation
- BROVCA2 Biallelic Gene Inactivation
- Breast Cancer 2 Biallelic Gene Inactivation
- Breast Cancer 2, Early Onset Biallelic Gene Inactivation
- Breast Cancer Type 2 Susceptibility Biallelic Gene Inactivation
- FANCD1 Biallelic Gene Inactivation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
BRCA2 Biallelic Inactivation
NCI META CUI
CL540195
Preferred Name
BRCA2 Biallelic Inactivation
Semantic Type
Cell or Molecular Dysfunction
code
C142122