Table 5

Special cases (see Table 1<$REFLINK> for family diagnosis)

CaseSexAge at diagnosis (yrs)Family typeSite of tumorMSIaIHCb MLH1IIHC MSH2IHC MSH6IHC PMS2Mutated genecExonAmino acid changeNucleotide change
1M657RectumLd0/++++?
2F394SigmoidS++0/++?
3F414CecumS++0/++no 6
4F703ColonS++0/+nano 1/2/6
5M404Right colonS+0/+0/++?
6M517Left colonS+0/+na+?
7M561CecumS0/+++0/+ MLH1 8R226Q677G>A (splice donor)
8M424SigmoidS+nana+MLH1, UVDelIVS13500 bpdeletion
9F515Left colonSnanananaMSH2, UV15S860L2579C>T
10M655ColonS++++MSH6, UV4S503C1508C>G
11M344AscendensSnanananaMSH6, UV5T1102T3306T>A
12M45Right colonSnananana MSH6 4V907fsX2719_2720delGT
13M711AscendensH0/++0/+na(MLH1)11Q301X901C>T
14M46CecumH0/++0/++ MLH1 16K618del1852–1854del
15M404Flexura lienalisH0/++0/+0/+no 1/2/6
16F473Flexura hepaticaH0/++0/+0/+?
17M74CecumH++0/+0/+?
18F38ColonH++0/+0/+MLH1, UV10R264C
19M391CecumH++0/+0/+MLH1, UV10R264C
20M42Flexura lienalisH0/0+0/00/+(MSH6, UV)IVS 93969_4002+51dup
21M747Left colonH+0/+0/+0/+no 1/2/6
22M7Left colonH+0/+na+no 1/2/6
23M531CecumH+0/+nanano 1/2/6
24F49Right colonH+0/+na+no 1/2/6
25M354TransversumLm+0/+0/++no 1/2/6
26M391AscendensH++0/+0/+ MLH1 1G6fsX2518_34del17
27M391TransversumH+++0/+ MLH1 16K618del1852–1854del
28F907TransversumH+++0/+MLH1, UV3S93G277A>C
29M344CecumH+/+++na0/+MLH1, UV2S44F131C>T
30M461ColonH+/++nana0/+ MLH1 5Q149X445C>T
31F431CecumH+/++++0/+ MLH1 5Q149X445C>T
  • a MSI, microsatellite instability; H, MSI-H; Lm, MSI-L with instability of only a mononucleotide marker; Ld, MSI-L with instability of only a dinucleotide marker; S, stability; MSS, microsatellite stability.

  • b IHC (immunohistochemistry). 0/0, tumor cell, no nuclear staining, internal control also absent; 0/+, no nuclear staining; +, nuclear staining; +/++, internal control more positive than tumor; na, not analyzed.

  • c Mutated gene: no 1/2/6, no mutation found in hMLH1/hMSH2 or hMSH6; no 6, no mutation found in hMSH6; ?, mutation status not fully tested; (MLH1), relative is known with a MLH1 mutation, in this case not tested; UV, unclassified variant.