BRCA1 interacting protein C-terminal helicase 1
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Micrograph showing serous carcinoma of the fallopian tube, a tumour that may be associated with a BRIP1 mutation. H&E stain.
BRCA1 interacting protein C-terminal helicase 1, abbreviated BRIP1, is a tumour suppressor gene that interacts with BRCA1 to help repair double-strand DNA breaks.[1] [2] It is a good example of a gene whose mutations cause clinical manifestations that can be dominant or recessive.
It is also known as BACH1 and FANCJ.
Disease associations
- Fanconi anemia with biallelic mutations (autosomal recessive manifestation).[2]
- Breast and ovarian cancer with monoallelic mutation (autosomal dominant manifestation).[2]
See also
References
- ↑ URL: https://www.ncbi.nlm.nih.gov/gene/83990. Accessed on: 05 March 2020.
- ↑ 2.0 2.1 2.2 URL: https://www.ncbi.nlm.nih.gov/books/NBK1401/. Accessed on: 05 March 2020.