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.