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. Author manuscript; available in PMC: 2020 Jun 12.
Published in final edited form as: Nat Rev Dis Primers. 2016 Aug 25;2:16061. doi: 10.1038/nrdp.2016.61

Table 2 |.

Functions of commonly mutated inherited genes associated with increased risk of ovarian cancer*

Gene Protein Protein function
BRCA1 Breast cancer type 1 susceptibility protein
  • Crucially involved in the repair of double-strand breaks by homologous recombination

  • Serves as a scaffold for other proteins involved in double-strand DNA repair, mostly through defective homologous recombination

  • Stabilizes RAD51-ssDNA complexes

BRCA2 Breast cancer type 2 susceptibility protein
BARD1 BRCA1-associated RING domain protein 1
  • Forms a heterodimer with BRCA1

  • The BRCA1-BARD1 complex is essential for mutual stability

BRIP1 BRCA1-interacting protein 1 (also known as Fanconi anaemia group J protein)
  • Binds to BRCA1

  • The BRCA1-BRIP1 complex is required for S phase checkpoint activation

PALB2 Partner and localizer of BRCA2
  • A bridging protein that connects BRCA1 and BRCA2 at sites of DNA damage

  • Helps load RAD51 onto ssDNA

RAD51C DNA repair protein RAD51 homologue 3
  • Strand exchange proteins that bind to ssDNA breaks to form nucleoprotein filaments and initiate DNA repair

RAD51D DNA repair protein RAD51 homologue 4
MSH2 MutS protein homologue 2
  • Mismatch repair proteins that recognize and repair base-pairing errors occurring during DNA replication

  • Mutations in mismatch repair genes are associated with Lynch syndrome

MLH1 MutL protein homologue 1
MSH6 MutS protein homologue 6
PMS2 Mismatch repair endonuclease PMS2

ssDNA, single-stranded DNA.

*

See REFS 26,3036.