Table 2 Defective MMR proteins in ovarian cancer
From: DNA damage repair in ovarian cancer: unlocking the heterogeneity
Gene/Protein | Role | Defect | Clinical Effect | Evidence of mutation in cases of HGS |
|---|---|---|---|---|
MLH1 | Forms MutLα with PMS2 [95] which has endonuclease activity. | Promoter methylation | Spontaneous tumours | 0.1% |
Exon deletion | Lynch Syndrome | |||
MSH6 | Forms hMutSβ with MSH2 to recognise and initiate repair [95] | Exon deletion | Lynch Syndrome | 0.45% |
MSH2 | Forms hMutSβ | 0.18% | ||
PMS2 | Forms MutLα | Loss | 0.05% | |
MutLα and MutSβ | Recruit ATM/ATR | Loss | Resistance to DNA methylating agents [77] |  |