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Hereditary nonpolyposis colorectal cancer

Disease Export to PDF
Name:
Hereditary nonpolyposis colorectal cancer
ORPHAcode:
443909
XREF(s):
Orphanet
Created:
18 Jul 2019 - 11:34
Changed:
18 Jul 2019 - 11:34
  • 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