Table 1 Definition for classification of missense variants in MSH6
LLS (Likely to be Lynch Syndrome): | ULS (Unlikely to be Lynch Syndrome): |
|---|---|
Fulfill one or more of the following criteria; | Fulfill one or more of the following criteria; |
1. Abnormal result of functional assay AND [abnormal IHC of only MSH6 OR MSI-H] | 1. Polymorphism (minor allele frequency ≥.01) |
2. Abnormal IHC of only MSH6 AND MSI-H | 2. Normal result of functional assay AND [MSS OR normal IHC of MSH6] |
3. [Abnormal IHC of only MSH6 OR segregation analysis] AND fulfill at least two of the following three criteria. | 3. MSS AND normal IHC of MSH6 |
a) Family history: More than one affected relatives who were diagnosed as CRC or endometrial cancer under 60 years old and at least in two successive generations. | Â |
b) Proband‘s tumor feature: diagnosed as CRC or endometrial cancer under 50 years old and/or synchronous or asynchronous multiple cancers. |  |
c) Control allele frequency = .00 (healthy population ≥ 100) |  |