Characteristics of 10 endometrial cancer and endometrial/colorectal cancer families and mutation screening results
| Fam No | Tumour type | MSI status | Mutation screening | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| MLH1 DGGE/PTT | MSH2 DGGE/PTT | MSH3 PTT | MSH6 PTT/sequencing | PMS1 PTT | PMS2 PTT | PTEN PTT | β–catenin sequencing of exon 3 | |||
| 154 | 3 EC1-150 | –1-151 | –/– | –/– | – | –/pm1-152 | – | – | – | – |
| 73 | 4 EC+Gi | ND1-153 | –/– | –/– | – | –/– | – | – | – | – |
| 54 | 4 EC | ND | –/– | –/– | – | –/– | – | – | – | – |
| 121 | 2 EC+1 CRC1-154 | – | –/– | –/– | – | –/– | – | – | – | – |
| 53 | 3 EC+3 CRC | – | –/– | –/– | – | –/– | – | – | – | – |
| 147 | 1 EC+1 CRC | – | –/– | –/– | – | –/– | – | – | – | – |
| 128 | 1 EC+4 CRC | – | –/– | –/– | – | –/– | – | – | – | – |
| 60 | 1 EC+3 CRC | – | –/– | –/– | – | –/– | – | – | – | – |
| 106 | 1 EC+4 CRC | ND | –/– | pm 1-160/– | – | –/pm1-164 | – | – | – | – |
| 82 | 1 EC+1 CRC | – | –/– | mut1-161/– | – | –/– | – | – | – | – |
↵1-150 Endometrial cancer.
↵1-151 MSI analysis and mutation screening was negative.
↵1-152 Polymorphism was CCA→CCG (Pro→Pro) at 276 of exon 2, and GAT→GAC (ASP→ASP) at 540 in MSH6.
↵1-153 MSI analysis was not done.
↵1-154 Colorectal cancer.
↵1-160 Polymorphism was C→G (Ala→Ala) at 984 of exon 6 inMSH2.
↵1-164 Polymorphism was CCA→CCG (Pro→Pro) at 276 of exon 2, and GAT→GAC (ASP→ASP) at 540 in MSH6.
↵1-161 Mutation was del TCT at 279–281 of exon 3 inMSH2.