Table 2

Germline mutations in the hMSH2 and hMLH1 genes

Method
Gene  Exon Codon Mutation Consequence Family Patient group SSCA HA PTT
hMSH2 2 97289 ins 22Frameshift130 1+++
 3173518 del TFrameshift 241-150 1++NE
Intron 5942+3 a→tIn frame deletion of exon 51192NE+
 73831147 C→TArg→stop1772+NE
 74091226 del AGFrameshift2251++NE
115611683 del AFrameshift 271-150 4+NE
115671699 del 5Frameshift167 3++NE
136972090 G→PheCys→Phe 621-150 1+
hMLH1 1  12 T→AInitiation codon 721-150 1++NE
 1 2573 del AFrameshift1101-150 1++NE
 1 2883 C→TPro→Leu 521-150 3++NE
 2 62184 C→TGln→stop 911-150 3+NE
 2 62184 C→TGln→stop1274++
 2 62184 C→TGln→stop2341++
 3 84250 A→GLys→Glu1713+
 8226676 C→TArg→stop 121-150 1+NE
Intron 9790+4 a→gSplice variation 671+NE
10264791 del 4Frameshift1431++NE
11329986 A→CHis→Pro96 1+
123561068 del 8Frameshift2593++NE
134971489 ins CFrameshift1441NE++
145411622 del CFrameshift1131++NE
145471640 T→ALeu→stop  51++NE
Intron 171989+1 g→tIn frame deletion of exon 171561NENE+
197222166 ins 6In frame insertion1544NE+NE
  • 1-150 Included in Wehner and colleagues21; included in Kruse and colleagues27 included in Wanget al.28

  • SSCA, single strand conformation analysis; HA, heteroduplex analysis; PTT, protein truncation test.

  • +, mutation detected; −, mutation not detected; NE, not examined.