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

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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.
[[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 <ref>URL: [https://www.ncbi.nlm.nih.gov/books/NBK1401/]. Accessed on: 05 March 2020.</ref>
*Fanconi anemia with biallelic mutations (autosomal recessive manifestation).<ref name=NBK1401/>
**with biallelic mutations (autosomal recessive manifestation)
*Breast and ovarian cancer with monoallelic mutation (autosomal dominant manifestation).<ref name=NBK1401/>
*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)
==See also==
*[[Familial breast cancer]].
 
==References==
{{Reflist|1}}
 
[[Category:Gynecologic pathology]]
[[Category:Molecular pathology]]

Latest revision as of 16:11, 4 November 2024

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.

Micrograph showing serous carcinoma of the fallopian tube, a tumour that may be associated with a BRIP1 mutation. H&E stain.

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.
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