Table 2

 Molecular features of young colorectal cancer patients

Patient NoMSIImmunohistochemistryMMR germline testingOther molecular genetic information
*Patient No 8 is the daughter of patient No 15.
NT, not tested; MMR, mismatch repair.
MSI, microsatellite instability—H, high frequency of microsatellite instability; S, microsatellite stable.
Immunohistochemistry: I, intact; D, deficient.
1HIIHomozygous MLH1 mutation20Normal karyotype
Exon 18 codon 687 CGG>TGG Arg287Trp
2HNTNTPMS2 mutation19
Exon 5 codon 134,CGA→TGA Arg→stop
3HIDMSH2 mutation
Exon 8 del codons 427–462
4SIINo mutation found (MLH1 and MSH2)Normal karyotype
7NTNTNTNTKin had MSI-H and MSH2 deficient tumour, no germline mutation found
8*NTNTNTNTKin had MSI-H and MLH1/MSH2 immuno intact tumour, no germline mutation found
9HIDMSH2 mutation
Exon 12 codon 636 G→C (1906G>C A636P)
10HDIMLH1 mutation
Exon 19 codon 730 (4bp ins AACA) STOP nucl2234–2236
11NTNTNTNo mutation found (MLH1 and MSH2)Kin had MSS tumour, no germline mutation found
12HDINo mutation found (MLH1 and MSH2)Tumour was methylated at the MLH1 promoter
13NTNTNTNo mutation found (MLH1 and MSH2)
14NTNTNTMSH2 mutation
Exon 15 codon 878 2633_2634delAG (E878fsX88)
15*HIINo mutation found (MLH1 and MSH2)
16HIINo mutation found (MLH1 and MSH2)