Table 3

Ovarian cancer cases with Lynch syndrome

GeneFIGO stage and histological subtypeAge (years)IHC loss
(4 protein panel)
MSIType of pathogenic variantPath_MMR variantMeets Amsterdam criteria?
MLH1Stage 1c clear cell59NoneNot testedLarge rearrangementMLH1 exon 6–19 deletionYes—Amsterdam modified
MSH2Stage 1a mixed endometrioid/clear cell34MSH2 lossMSI-HSplice siteMSH2 c.1276+2T>CNo
MSH2Stage 3c high grade serous38MSH2 and MSH6 lossMSI-LTruncatingMSH2 c.528_529delTGNo
MSH2Stage 1a carcinosarcoma48MSH2 and MSH6 LossMSI-HLarge rearrangementMSH2 exon 3 deletionNo
MSH2Stage 1c endometrioid51MSH2 and MSH6 lossMSI-HTruncatingMSH2 c.196delTNo
MSH6Stage 1a endometrioid47MSH6 lossNot testedSplice siteMSH6 c.3439–1G>TYes—Amsterdam modified
MSH6Stage 1 endometrioid50MSH6 lossMSI-HMissenseMSH6 c.1346T>C p.Leu449ProNo
MSH6Stage 2 high grade serous50MSH6 lossMSI-STruncatingMSH6 c.3732_3735dupATTTNo
MSH6Stage 3c poorly differentiated endometrioid with focal neuroendocrine features53MSH6 lossNot testedTruncatingMSH6 c.3261delCNo
  • IHC, immunohistochemistry; MMR, mismatch repair.