Table 2. Genotype distributions within age intervals in Spanish MMR mutation carriers.
| Genotype | LS ca. <45 n (%) | LS ca. ≥45 n (%) | RR (95% CI)a | P |
|---|---|---|---|---|
| GG | 31 (38.3) | 43 (50.0) | ||
| GA | 43 (53.1) | 29 (33.7) | 4.69 (0.92–23.88) | 0.062 |
| AA | 7 (8.6) | 14 (16.3) | 3.76 (0.41–34.31) | 0.241 |
| LRT (2 df) | 0.126 | |||
| GA+AA | 50 (61.7) | 43 (50.0) | 4.66 (0.92–23.71) | 0.064 |
| LRT (1 df) | 0.044 | |||
| Per allele | 1.98 (0.70–5.65) | 0.199 | ||
| LRT (1 df) | 0.192 |
Abbreviations: CI, confidence interval; df, degrees of freedom; LRT, likelihood ratio test; LS ca., colon, rectum, endometrium, stomach, ovary, urinary tract or small intestine cancer; MMR, mismatch repair; RR, relative risk.
Young cancer-affected MMR mutation carriers (cancer diagnosed before 45 years of age) are compared with MMR mutation carriers who developed a LS-associated tumor after 45 years of age or who are cancer-free after 45 years of age.
a
RRs were estimated using conditional logistic regression adjusting for familial clustering.