Difference between revisions of "BRCA1 interacting protein C-terminal helicase 1"

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[[Image: Serous carcinoma - fallopian tube -- intermed mag.jpg | thumb | right | Serous carcinoma of the fallopian tube. [[H&E stain]].]]
[[Image: Serous carcinoma - fallopian tube -- intermed mag.jpg | thumb | right | Serous carcinoma of the fallopian tube. [[H&E stain]].]]
'''BRCA1 interacting protein C-terminal helicase 1''', abbreviated '''BRIP''', 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.
'''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''.
It is also known as ''BACH1'' and ''FANCJ''.

Revision as of 05:23, 4 November 2024

Serous carcinoma of the fallopian tube. 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

  1. URL: https://www.ncbi.nlm.nih.gov/gene/83990. Accessed on: 05 March 2020.
  2. 2.0 2.1 2.2 URL: https://www.ncbi.nlm.nih.gov/books/NBK1401/. Accessed on: 05 March 2020.