Table 7.

Summary of previous studies comparing genotype and phenotype in Lynch syndrome

StudyPopulationNo. MMR mutationsNo. subjects (families/ mutation carriers)Summary findings of phenotypic comparison
Vasen et al. (7)Dutch34 MLH179 familiesCRC: higher lifetime risk in MSH2 (NS)
40 MSH21,842 related carriersEndometrial cancer: higher lifetime risk in MSH2 (NS)
Other cancers: brain, stomach, ovarian, urinary tract* more prevalent in MSH2
Peltomaki et al. (16)Finnish51 MLH155 familiesCRC: more prevalent in MLH1
4 MSH2295 related carriersEndometrial cancer: more prevalent in MSH2 (NS)
Other cancers: more prevalent in MSH2 (NS)
Parc et al. (17)French65 MLH1163 index casesCRC: no difference
79 MSH2348 related carriersEndometrial cancer: higher risk in MSH2 (NS)
Other cancers: no difference
Goecke et al. (18)German124 MLH1281 familiesCRC: more prevalent in MLH1*; younger age of diagnosis in MLH1 males
157 MSH2988 related carriersEndometrial cancer: no difference
Other cancers: sebaceous skin tumors,* prostate, bladder more prevalent in MSH2
Kastrinos et al.United States112 MLH1285 unrelated carriersCRC: more prevalent in MLH1 (NS); younger age of diagnosis in MLH1 males
173 MSH2936 affected family membersEndometrial cancer: no difference
Other cancers: urinary tract, ovarian, sebaceous skin tumors* more prevalent in MSH2
  • Abbreviations: MMR, mismatch repair; NS, statistically nonsignificant.

  • * P < 0.05.