Skip to main content

Table 1 Description of MMR mutation-carrying participants – mutation information and counts of kin (family size), kin with blood, colorectal cancer (CRC) amongst kin, and mutation carriers amongst kin by relative degree

From: Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario

    No. of kin reported No. of kin with CRC reported No. of kin with blood No. of mutation carriers
Gene Germline Mutation Mutation Consequence 1st 2nd 1st 2nd 1st 2nd 1st 2nd
MLH1 c.1852_1853 AA>GC p.Lys618Ala 4 16 2 0 2 5 0 0
  c.1689_1690insA p.Ile563IlefsX4 3 12 1 2 2 0 0 0
  c.1732_1896del Exon 16 del 6 11 2 0 2 4 1 3
  c.116+5 G>C Splice-site defect 7 13 1 1 2 0 1 0
  c.793C>T p.Arg265Cys 10 23 2 5 1 6 1 1
  c.793C>T p.Arg265Cys 7 25 1 5 2 5 1 0
  c.346delA p.Thr116GlnfsX20 2 5 1 2 0 0 0 0
  c.731G>A p.Gly244Asp 6 5 2 0 5 0 5 0
  c.790+2T>C Splice-site defect 9 19 3 1 6 7 3 3
  c.298C>T p.Arg100X 7 6 2 0 1 0 0 0
  c.1975C>T p.Arg659X 3 5 2 3 3 0 0 0
  c.2223_2231del In-frame deletion 9 11 2 1 3 0 2 0
  c.793C>T p.Arg265Cys 4 11 1 1 2 0 1 0
  c.350C>T Thr117Met 9 10 1 0 4 0 3 0
  Total:   86 172 23 21 35 27 18 7
MSH2 c.1216C>T p.Arg406X 5 5 2 0 1 1 0 0
  c.1165C>T p.Arg389X 3 7 1 2 1 1 1 1
  c.1277_1386del Exon 8 deletion 5 18 4 3 1 2 1 0
  c.2075G>T p.Gly692Val 5 10 1 3 0 0 0 0
  c.136_164del p.His46GlyfsX35 3 5 1 2 2 0 2 0
  c.2135_2136insT p.Val712ValfsX4 5 11 2 1 1 0 0 0
  c.942+3A>T Splice-site defect 13 33 3 1 1 3 1 0
  c.1511-2A>G Splice-site defect 9 3 1 0 2 1 2 1
  c.363T>G p.Tyr121X 10 23 3 1 7 1 1 0
  c.1_1386del Exons 1–8 deletion 9 21 3 0 4 6 3 3
  c.1705_1706del p.Glu569IlefsX2 3 7 1 2 1 4 1 3
  c.965G>T p.Gly322Asp 6 14 1 0 1 0 0 0
  c.942+3A>T Splice-site defect 5 9 2 1 2 1 2 1
  c.645+1G>A Splice-site defect 5 7 1 2 1 0 1 0
  c.1705_1706del p.Glu569IlefsX2 5 12 2 0 2 0 0 0
  c.1165C>T p.Arg389X 7 22 3 1 3 6 2 3
  c.1165C>T p.Arg389X 3 5 1 1 1 2 1 2
  Total:   101 212 32 20 31 28 18 14
MSH6 c.3335_3336insATGA p.Asp1112GlufsX2 12 37 1 0 5 1 2 1
  Total:   12 37 1 0 5 1 2 1
  Grand total:   199 421 56 41 71 56 38 22
  1. (1st = first degree relatives, 2nd = second degree relatives)