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. [1] [2] It is a good example of a gene whose mutations cause clinical manifestations that can be dominant or recessive.

Disease associations

  • Fanconi anemia [3]
    • with biallelic mutations (autosomal recessive manifestation)
  • Breast and ovarian cancer[4]
    • With monoallelic mutation (autosomal dominant manifestation)
  1. ↑ URL: [1]. Accessed on: 05 March 2020.
  2. ↑ URL: [2]. Accessed on: 05 March 2020.
  3. ↑ URL: [3]. Accessed on: 05 March 2020.
  4. ↑ URL: [4]. Accessed on: 05 March 2020.
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