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Difference between revisions of "BRCA1 interacting protein C-terminal helicase 1"
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BRCA1 interacting protein C-terminal helicase 1 (view source)
Revision as of 14:38, 5 March 2020
, 14:38, 5 March 2020no edit summary
(Created page with "BRIP1 (BRCA1-interacting protein C-terminal helicase 1) is a tumour suppressor gene that interacts with BRCA1 to help repair double-strand DNA breaks. <ref>URL: [https://www.n...") |
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BRIP1 (BRCA1-interacting protein C-terminal helicase 1) is a tumour suppressor gene that interacts with BRCA1 to help repair double-strand DNA breaks. <ref>URL: [https://www.ncbi.nlm.nih.gov/gene/83990]. Accessed on: 05 March 2020.</ref> | BRIP1 (BRCA1-interacting protein C-terminal helicase 1; AKA BACH1, FANCJ) is a tumour suppressor gene that interacts with BRCA1 to help repair double-strand DNA breaks. <ref>URL: [https://www.ncbi.nlm.nih.gov/gene/83990]. Accessed on: 05 March 2020.</ref> <ref>URL: [https://www.ncbi.nlm.nih.gov/books/NBK1401/]. Accessed on: 05 March 2020.</ref> It is a good example of a gene whose mutations cause clinical manifestations that can be dominant or recessive. | ||
==Disease associations== | |||
*Fanconi anemia <ref>URL: [https://www.ncbi.nlm.nih.gov/books/NBK1401/]. Accessed on: 05 March 2020.</ref> | |||
**with biallelic mutations (autosomal recessive manifestation) | |||
*Breast and ovarian cancer<ref>URL: [https://www.ncbi.nlm.nih.gov/books/NBK1401/]. Accessed on: 05 March 2020.</ref> | |||
**With monoallelic mutation (autosomal dominant manifestation) | |||