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BRCA1 interacting protein C-terminal helicase 1 (view source)
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BRIP1 | [[Image: Serous carcinoma - fallopian tube -- intermed mag.jpg | thumb | right | 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.<ref>URL: [https://www.ncbi.nlm.nih.gov/gene/83990 https://www.ncbi.nlm.nih.gov/gene/83990]. Accessed on: 05 March 2020.</ref> <ref name=NBK1401>URL: [https://www.ncbi.nlm.nih.gov/books/NBK1401/ 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. | |||
It is also known as ''BACH1'' and ''FANCJ''. | |||
==Disease associations== | ==Disease associations== | ||
*Fanconi anemia | *Fanconi anemia with biallelic mutations (autosomal recessive manifestation).<ref name=NBK1401/> | ||
*Breast and ovarian cancer with monoallelic mutation (autosomal dominant manifestation).<ref name=NBK1401/> | |||
*Breast and ovarian cancer<ref> | |||
==See also== | |||
*[[Familial breast cancer]]. | |||
==References== | |||
{{Reflist|1}} | |||
[[Category:Gynecologic pathology]] | |||
[[Category:Molecular pathology]] | |||