- Diseases
- Hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer
Name: |
Hereditary nonpolyposis colorectal cancer
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ORPHAcode: |
443909
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XREF(s): | |
Created: |
18 Jul 2019 - 11:34
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Changed: |
18 Jul 2019 - 11:34
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- Adenomatous polyposis, familial (gene panel)
- Colon carcinoma (hereditary/familial) (gene panel)
- Colorectal cancer / Polyposis (gene panel)
- Hereditary cancer panel (gene panel)
- Hereditary nonpolyposis colorectal cancer (gene panel)
- Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes)
- Microsatellite instability analysis
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Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 PMS2 100.00 1 POLD1 100.00 1 POLE 100.00 1 PTEN 100.00 1 STK11 100.00 1 BRIP1 100.00 1 PMS1 100.00 1 -
Colorectal cancer/polyposis (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 EPCAM 100.00 1 POLD1 100.00 1 POLE 100.00 1 CHEK2 100.00 1 TP53 100.00 1 APC 100.00 1 STK11 100.00 1 BMPR1A 100.00 1 SMAD4 100.00 1 PTEN 100.00 1 RNF43 100.00 1 NTHL1 100.00 1 MSH3 100.00 1 MUTYH 100.00 1 -
Hereditary Cancer Solution (35 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 ISO15189 ATM 100.00 1 ISO15189 BAP1 100.00 1 ISO15189 BARD1 100.00 1 ISO15189 BMPR1A 100.00 1 ISO15189 BRCA1 100.00 1 ISO15189 BRCA2 100.00 1 ISO15189 BRIP1 100.00 1 ISO15189 CDH1 100.00 1 ISO15189 CDKN2A 100.00 1 ISO15189 CHEK2 100.00 1 ISO15189 EPCAM 100.00 1 ISO15189 GREM1 100.00 1 ISO15189 MLH1 100.00 1 ISO15189 MRE11 100.00 1 ISO15189 MSH2 100.00 1 ISO15189 MSH3 100.00 1 ISO15189 MSH6 100.00 1 ISO15189 MUTYH 100.00 1 ISO15189 NBN 100.00 1 ISO15189 NTHL1 100.00 1 ISO15189 PALB2 100.00 1 ISO15189 PIK3CA 100.00 1 ISO15189 PMS2 100.00 1 ISO15189 POLD1 100.00 1 ISO15189 POLE 100.00 1 ISO15189 PTEN 100.00 1 ISO15189 RAD50 100.00 1 ISO15189 RAD51C 100.00 1 ISO15189 RAD51D 100.00 1 ISO15189 SCG5 100.00 1 ISO15189 SMAD4 100.00 1 ISO15189 STK11 100.00 1 ISO15189 TP53 100.00 1 ISO15189 XRCC2 100.00 1 ISO15189 -
Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 CNV assessed by MLPA MSH2 100.00 1 CNV assessed by MLPA MSH6 100.00 1 CNV assessed by MLPA EPCAM 100.00 0 TP53 100.00 1 CNV assessed by MLPA MUTYH 100.00 1 CNV assessed by MLPA (on demand) POLE 100.00 0 POLD1 100.00 0