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Table 2 Immunohistochemistry (IHC) and microsatellite instability (MSI) analysis on tumor samples of the colorectal cancer families

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