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
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 | ||