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
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Laboratory: | |
Created: |
04 Jun 2019 - 10:59
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Changed: |
13 Dec 2022 - 12:11
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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 |