Belgian Genetic Tests database
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
| Full name: |
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
|
| Laboratory: | |
| Created: |
04 Jun 2019 - 10:59
|
| Changed: |
13 Dec 2022 - 12:11
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| APC | 100.00 | 1 | |
| AXIN2 | 100.00 | 0 | |
| BMPR1A | 100.00 | 1 | |
| EPCAM | 100.00 | 1 | CNV for EPCAM exon 7-9 and region between EPCAM and MSH2 |
| GREM1 | 100.00 | 1 | CNV for recurrent 40kb duplication |
| MLH1 | 100.00 | 1 | |
| MSH2 | 100.00 | 1 | |
| MSH3 | 100.00 | 0 | |
| MSH6 | 100.00 | 1 | |
| MUTYH | 100.00 | 1 | |
| NTHL1 | 100.00 | 0 | |
| PMS2 | 100.00 | 1 | |
| POLD1 | 100.00 | 0 | |
| POLE | 100.00 | 1 | |
| PTEN | 100.00 | 1 | |
| RNF43 | 100.00 | 0 | |
| SMAD4 | 100.00 | 1 | |
| STK11 | 100.00 | 1 |