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Familial adenomatous polyposis

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Name:
Familial adenomatous polyposis
Description:

Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
ORPHAcode:
733
Synonyms:
Colorectal adenomatous polyposis
FAP
Familial polyposis coli
XREF(s):
175100
Created:
03 Aug 2018 - 10:54
Changed:
03 Aug 2018 - 10:54
  • Adenomatous polyposis, familial (2 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 77.00 0
    MUTYH 77.00 1
  • 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
  • Hereditary Polyposis Panel (11 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 CNV assessed by MLPA
    MUTYH 100.00 1 CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit)
    BMPR1A 100.00 0
    NTHL1 100.00 0
    SMAD4 100.00 0
    MSH3 100.00 0
    POLE 100.00 0
    POLD1 100.00 0
    PTEN 100.00 1 CNV assessed by MLPA (on demand)
    STK11 100.00 0
    GREM1 100.00 1 CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit)
  • Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1
    BMPR1A 100.00 1
    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
    SMAD4 100.00 1
    STK11 100.00 1
    RNF43 100.00 0
    AXIN2 100.00 0
    EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2
  • Hereditary predisposition to cancer (47 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 NM_000038.6
    ATM 100.00 1 NM_000051.3
    BAP1 100.00 1 NM_004656.4
    BARD1 100.00 1 NM_000465.4
    BMPR1A 100.00 1 NM_004329.3
    BRCA1 100.00 1 NM_007294.4
    BRCA2 100.00 1 NM_000059.3
    BRIP1 100.00 1 NM_032043.3
    CDH1 100.00 1 NM_004360.5
    CDKN1B 100.00 1 NM_004064.4
    CDKN2A 100.00 1 NM_001195132.1
    CHEK2 100.00 1 NM_007194.4
    EPCAM 100.00 1 NM_002354.3
    GATA2 100.00 1 NM_032638.5
    GREM1 100.00 1 NM_013372.7
    MEN1 100.00 1 NM_001370259.2
    MLH1 100.00 1 NM_000249.4
    MSH2 100.00 1 NM_000251.3
    MSH3 100.00 1 NM_002439.5
    MSH6 100.00 1 NM_000179.3
    MUTYH 100.00 1 NM_001128425.2
    NBN 100.00 1 NM_002485.5
    NTHL1 100.00 1 NM_002528.7
    PALB2 100.00 1 NM_024675.4
    PIK3CA 100.00 1 NM_006218.4
    PMS2 100.00 1 NM_000535.7
    POLD1 100.00 1 NM_002691.4
    POLE 100.00 1 NM_006231.4
    PTEN 100.00 1 NM_000314.8
    RAD50 100.00 1 NM_005732.4
    RAD51C 100.00 1 NM_058216.3
    RAD51D 100.00 1 NM_002878.3
    RPS20 100.00 1 NM_001146227.2
    SCG5 100.00 1 NM_001144757.2
    SMAD4 100.00 1 NM_005359.6
    STK11 100.00 1 NM_000455.5
    TP53 100.00 1 NM_000546.5
    WWP1 100.00 1 NM_007013.4
    AXIN2 100.00 1 NM_004655.4
    CDK4 100.00 1 NM_000075.4
    DICER1 100.00 1 NM_030621.4
    HOXB13 100.00 1 NM_006361.6
    NF1 100.00 1 NM_001042492.3
    POT1 100.00 1 NM_015450.3
    PTCH1 100.00 1 NM_000264.5
    RB1 100.00 1 NM_000321.2
    RET 100.00 1 NM_020975.6