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. 2015 Oct 22;6(38):41108–41122. doi: 10.18632/oncotarget.5694

Table 3. distribution of familial MMR mutations and risk-variants outside the MMR genes (class-3 or more, i.e. putatively risk modifiers) among patients with neutral and poor clinical phenotypes.

Total subjects Neutral tumor phenotype Poor tumor phenotype
No. No. p-value
14** 23**
Lifespan* 64.2 ± 6.0 66.8 ± 14.1 ns#
FAMILIAL MMR MUTATIONS No. % No. % p-value
MLH1 0 0.0 3 13.6 ns##*
MSH2 2 15.4 6 27.3
MSH6 12 92.3 12 54.5
PMS2 0 0.0 2 9.1
PRESENCE OF ADDITIONAL RISK-VARIANTS*** no variant 5 38.5 2 9.1 0.0471##@
one variant 6 46.2 4 18.2
two variants 1 7.7 5 22.7
three variants 1 7.7 8 36.4
four variants 0 0.0 2 9.1
five variants 0 0.0 1 4.5
0 or 1 variant 11 84.6 6 27.3 0.0016###
2 or more var. 2 15.4 16 72.7
*

age of subjects in 2013 was used as lifespan (mean age ± standard deviation in years).

**

13 and 22 subjects were successfully analyzed by NGS.

***

risk-variants, i.e. class-3 or higher, in genes other than the MMR were considered.

#

T-test to compare mean values.

##*

Chi square, with 3 degrees of freedom.

##@

Chi square, with 5 degrees of freedom, Pearson's: 11.225.

###

Fisher exact test, two sided p-value.

ns = non-significant.