Table 2

IHC loss and constitutional MMR pathogenic variant detection rates in all index ovarian cases tested

Tested (n)IHC loss (n)IHC loss (%)Tested for path_MMR (n)Lynch syndrome (n)Lynch syndrome (%)
Any loss2612710.318844.4
MLH1 loss26172.7300.0
Either MSH2 or MSH6261197.315853.3
MSH2 loss261134.99444.4
MSH6 loss261103.89666.7
MSH6 loss alone26172.76466.7
PMS2 loss alone26100.000
No Loss23400.0151*6.7
  • *Ovarian clear cell carcinoma aged 59 years had exon 6–19 deletion of MLH1 with normal IHC –family met Amsterdam II criteria. She also carries a BRCA1 exon 13 duplication. She developed grade 3 triple negative breast cancer at 71 and sebaceous carcinoma at 67 years.

  • IHC, immunohistochemistry; MMR, mismatch repair.