From: A rare large duplication of MLH1 identified in Lynch syndrome
Family | Variant | IHC MLH1 | IHC PMS2 | IHC MSH2 | IHC MSH6 | MSI |
---|---|---|---|---|---|---|
Family A | MLH1 duplication exons 4–13 | negative | negative | positive | positive | high |
Family B | MLH1 c.1274delG;p.Arg425Serfs*66 | negative | negative | positive | positive | failed |
Family C | MSH2 c.792 + 1G > C | positive | positive | negative | negative | high |