Table 3 Mismatch repair gene mutation carriers their cancer history and family history, and the results of immunohistochemistry and microsatellite instability analysis.
| Patient number, sex | Gene / exon | DNA change/ protein change | Cancer/ age at diagnosis (years) | MSI H/L | IHC: presence of | FH/ACII | ||
|---|---|---|---|---|---|---|---|---|
| MLH1 | MSH2 | MSH6 | ||||||
| 1. Male | MLH1 | 18del( | CRC/45 | ND | ND | ND | ND | +/− |
| 1 | GTTATTCGGCGGCTGGA) | CRC/49 | H | − | + | ND | P: CRC 42 | |
| Gly6FsX29 | STC/53 | L | ND | ND | ND | |||
| 2. Female | MLH1 | c. 380G→A | CRC/13 | H | − | + | + | +/− |
| 4 | SD destroyed | P: CRC/27 | ||||||
| 3. Female | MLH1 | c. 860_861insA | CRC/46 | H | − | + | + | +/+ |
| 10 | p. Asn287fsX306 | CRC/46 | ND | ND | ND | ND | M: CRC/80 | |
| 4. Female | MLH1 | Del exon 16 | CRC/50 | H | − | + | + | +/+ |
| 16 | EC/50 | H | ND | ND | ND | M: EC/50 S: CRC/48 | ||
| 5. Male | MLH1 | Del exon 16 | CRC/44 | H | NI | + | + | −/− |
| 16 | ||||||||
| 6. Male | MLH1 | Del exon 16 | CRC/41 | ND | ND | ND | ND | −/− |
| 16 | CRC/48 | ND | ND | ND | ND | |||
| CRC/48 | H | + | + | + | ||||
| 7. Female | MLH1 | c. 1852–1854delGAA | CRC/25 | H | − | + | ND | +/− |
| 16 | p. Lys618del | P: CRC/36 | ||||||
| 8. Female* | MLH1 | c. 1946delC | EC/49 | H | − | + | NI | +/+ |
| 17 | p. Pro649fsX661 | CRC/53 | H | − | + | + | P: CRC/72 S: EC/? | |
| 9. Female | MSH2 | Del exon 1–3 | BLC/56 | H | + | NI | − | −/− |
| 1–3 | 2xCRC/58 | H | + | − | − | |||
| EC/59 | L | + | − | − | ||||
| 10. Male | MSH2 | Del exon 2 | CRC/46 | H | ND | ND | ND | +/+ |
| 2 | Out of frame del | M: EC/59 | ||||||
| 11. Female | MSH2 | Del exon 2 | EC/42 | H | + | − | − | +/+ |
| 2 | Out of frame del | CRC/47 | H | + | − | − | M: EC/39 | |
| 12. Female | MSH2 | c. 759delG | OC/42 | ND | ND | ND | ND | −/− |
| 4 | p. Met253fsX273 | CRC/48 | H | + | − | ND | ||
| CRC/62 | ND | ND | ND | ND | ||||
| CRC/65 | ND | ND | ND | ND | ||||
| 13. Male | MSH2 | Del exon 4–7 | CRC/38 | ND | ND | ND | ND | +/− |
| 4–7 | Out of frame del | CRC/50 | H | + | − | + | P: STC/43 | |
| 14. Female | MSH2 | Del exon 11–14 | EC/48 | H | + | − | − | +/+ |
| 11–14 | In frame deletion of 183 amino acids | CRC/54 | H | + | − | − | M: EC/43 | |
| 15. Female | MSH2 | c. 1835C→G | CRC/31 | ND | ND | ND | ND | +/+ |
| 12 | p. Ser612stop | CRC/53 | H | + | − | NI | P: CRC/51 | |
| 16. Female | MSH2 | c. 1861C→T | CRC/29 | H | + | − | ND | +/− |
| 12 | p. Arg621stop | M: RPC/55 | ||||||
| 17. Male | MSH2 | Del exon 12–16 | CRC/25 | H | + | − | − | +/+ |
| 12–16 | Out of frame deletion | M: EC/56 | ||||||
| 18. Female | MSH6 | c. 649–650insT | CRC/59 | L | + | + | − | +/− |
| 4 | p. Asp217fsX218 | EC/65 | L | + | + | + | P: CRC/78 B: CRC/55 | |
| 19. Female | MSH6 | c. 649–650insT | DC/51 | L | + | + | − | +/− |
| 4 | p. Asp217fsX218 | CRC/51 | ND | ND | ND | ND | S: CRC/43 | |
| 20. Male | MSH6 | c. 649–650insT | CRC/41 | L | + | + | − | +/− |
| 4 | p. Asp217fsX218 | M: BTC/82 | ||||||
| 21. Female | MSH6 | c. 649–650insT | CRC/45 | H | NI | NI | NI | +/− |
| 4 | p. Asp217fsX21 | CRC/53 | H | NI | NI | NI | M: GIC/68 S: STC/46 | |
| 8 | STC/62 | ND | ND | ND | ND | S: EC/50 | ||
| 22. Female | MSH6 | c. 649–650insT | CRC/50 | ND | ND | ND | ND | +/+ |
| 4 | p. Asp217fsX218 | CRC/83 | H | + | + | − | SN: CRC/37 D: EC/55 | |
| 23. Male | MSH6 | c. 2672delT; 2674delT | CRC/55 | H | − | + | − | +/− |
| 4 | p. Ile891fsX899 | CRC/55 | H | − | + | + | B: CRC/42 | |
| 24. Male | MSH6 | c. 3262–3263insT | CRC/38 | H | + | + | + | −/− |
| 5 | p. Phe1088fsX1092 | |||||||
| 25. Female | MSH6 | c. 3772C→T | 8 cancers† | −/− | ||||
| 8 | Gln1258sto p. | CRC/77 | L | + | + | − | ||
| RPC/63 | H | ND | ND | ND | ||||
ACII, Amsterdam criteria II; BLC, bladder cancer; BTC, biliary tract cancer; C, DNA changes; CRC, colorectal cancer; D, daughter; DC, duodenal cancer; EC, endometrial cancer; FH, first‐degree family history for HNPCC‐associated tumours; GIC, gastrointestinal cancer; HNPCC, hereditary non‐polyposis colorectal cancer; IHC, immunohistochemistry; M, mother; MSI, microsatellite instability; ND, not done; NI, not interpretable; OC, ovarian cancer; P, father; P, protein changes; RPC, renal pelvic cancer; S, sibling; SD, splicing donor site; SN, son; STC, stomach cancer; UC, ureteric cancer.
*This patient also carried an MSH2 missense mutation.
†Other cancers in this patient were OC/49, CRC/55, EC/57, UC/65, UC/77 and CRC/77.