Table 1

Mutations in RNF43

LesionMutation frequency (%)MutationTypeRate (%)Reference
Sessile serrated adenoma72.7With dysplasia and loss of MLH1p.Gly659fsFrameshift mutations34.4 15
72.7With/without dysplasia and retained MLH1VariousFrameshift and AA substitution mutations
No host spot
65.6
Lynch syndrome adenomas52MMR-deficientp.Arg117fs/
p.Gly659fs
Frameshift mutations66 17
Colorectal adenocarcinoma18.9MSI-Hp.Gly659fsFrameshift mutations41.7 18
MSI-Hp.Arg117fsFrameshift mutations8.3
Colorectal adenocarcinoma87 BRAF mutant/MSIp.Gly659fsFrameshift mutations80 20
Gastric adenocarcinoma54.6MSI-Hp.Gly659fsFrameshift mutations 21 22
4.8MSSVariousVarious
Endometrial carcinomas18.1MSI-Hp.Gly659fsFrameshift mutations47.3 18
18.1MSI-Hp.Arg117fsFrameshift mutations3.6
IPMN50N/AVariousFrameshift
Missense
Nonsense mutations
No hot spot
25
  • IPMN, intraductal papillary mucinous neoplasm; MMR, mismatch repear; MSI-H, microsatellite high; MSS, microsatellite stable.